SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122689T= , CM000668.2:g.152122689T= | GRCh38 |
| NC_000006.11:g.152443824T= , CM000668.1:g.152443824T= | GRCh37 |
| NC_000006.10:g.152485517T= | NCBI36 |
| NG_012855.1:g.519711A= | |
| NG_008493.2:g.470999T= | |
| NG_012855.2:g.519711A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2688-13A= (SYNE1) MANE Plus Clinical | ENSP00000346701.4:n.2688-13A= | |
| ENST00000367255.10:c.26154-13A= (SYNE1) MANE Select | ENSP00000356224.5:n.26154-13A= | |
| ENST00000423061.6:c.26010-13A= (SYNE1) | ENSP00000396024.1:n.26010-13A= | |
| ENST00000672154.1:c.1497-13A= (SYNE1) | ||
| ENST00000672169.1:c.1872-13A= (SYNE1) | ||
| ENST00000673173.1:c.1739-13A= (SYNE1) | ||
| ENST00000673451.1:c.2004-13A= (SYNE1) | ENSP00000500189.1:n.2004-13A= | |
| ENST00000341594.9:c.24939-13A= (SYNE1) | ENSP00000341887.6:n.24939-13A= | |
| ENST00000347037.9:n.2902-13A= (SYNE1) | ||
| ENST00000354674.4:c.2688-13A= (SYNE1) | ENSP00000346701.4:n.2688-13A= | |
| ENST00000367251.7:c.4930-13A= (SYNE1) | ENSP00000356220.3:n.4930-13A= | |
| ENST00000367255.9:c.26154-13A= (SYNE1) | ENSP00000356224.5:n.26154-13A= | |
| ENST00000367256.9:n.9846-13A= (SYNE1) | ||
| ENST00000367257.8:c.4033-13A= (SYNE1) | ENSP00000356226.4:n.4033-13A= | |
| ENST00000409694.6:n.9738-13A= (SYNE1) | ||
| ENST00000423061.5:c.26010-13A= (SYNE1) | ENSP00000396024.1:n.26010-13A= | |
| ENST00000427531.6:c.851-2577T= (ESR1) | ENSP00000394721.2:n.851-2577T= | |
| ENST00000460912.6:n.2768-13A= (SYNE1) | ||
| ENST00000478916.5:n.6791-13A= (SYNE1) | ||
| ENST00000536990.5:n.2932-13A= (SYNE1) | ||
| ENST00000539504.5:c.2619-13A= (SYNE1) | ENSP00000441052.1:n.2619-13A= | |
| NM_033071.3:c.26010-13A= (SYNE1) | NP_149062.1:n.26010-13A= | |
| NM_182961.3:c.26154-13A= (SYNE1) | NP_892006.3:n.26154-13A= | |
| XM_006715407.1:c.26301-13A= (SYNE1) | XP_006715470.1:n.26301-13A= | |
| XM_006715408.1:c.26289-13A= (SYNE1) | XP_006715471.1:n.26289-13A= | |
| XM_006715409.1:c.26280-13A= (SYNE1) | XP_006715472.1:n.26280-13A= | |
| XM_006715410.1:c.26259-13A= (SYNE1) | XP_006715473.1:n.26259-13A= | |
| XM_006715411.1:c.26250-13A= (SYNE1) | XP_006715474.1:n.26250-13A= | |
| XM_006715412.1:c.26244-13A= (SYNE1) | XP_006715475.1:n.26244-13A= | |
| XM_006715413.1:c.26232-13A= (SYNE1) | XP_006715476.1:n.26232-13A= | |
| XM_006715414.1:c.26229-13A= (SYNE1) | XP_006715477.1:n.26229-13A= | |
| XM_006715415.1:c.26190-13A= (SYNE1) | XP_006715478.1:n.26190-13A= | |
| XM_006715416.1:c.26175-13A= (SYNE1) | XP_006715479.1:n.26175-13A= | |
| XM_006715417.1:c.26160-13A= (SYNE1) | XP_006715480.1:n.26160-13A= | |
| XM_006715420.1:c.26148-13A= (SYNE1) | XP_006715483.1:n.26148-13A= | |
| XM_006715421.1:c.26145-13A= (SYNE1) | XP_006715484.1:n.26145-13A= | |
| XM_006715422.1:c.26142-13A= (SYNE1) | XP_006715485.1:n.26142-13A= | |
| XM_006715423.1:c.26242-13A= (SYNE1) | XP_006715486.1:n.26242-13A= | |
| XM_006715424.1:c.26200-13A= (SYNE1) | XP_006715487.1:n.26200-13A= | |
| XM_006715425.1:c.26131-13A= (SYNE1) | XP_006715488.1:n.26131-13A= | |
| XM_011535641.1:c.26298-13A= (SYNE1) | XP_011533943.1:n.26298-13A= | |
| XM_011535642.1:c.26286-13A= (SYNE1) | XP_011533944.1:n.26286-13A= | |
| XM_011535643.1:c.26136-13A= (SYNE1) | XP_011533945.1:n.26136-13A= | |
| XM_011535644.1:c.24576-13A= (SYNE1) | XP_011533946.1:n.24576-13A= | |
| XM_011535645.1:c.24069-13A= (SYNE1) | XP_011533947.1:n.24069-13A= | |
| XM_011535647.1:c.19536-13A= (SYNE1) | XP_011533949.1:n.19536-13A= | |
| NM_001328100.1:c.851-2577T= (ESR1) | NP_001315029.1:n.851-2577T= | |
| NM_001347701.1:c.2701-13A= (SYNE1) | NP_001334630.1:n.2701-13A= | |
| NM_001347702.1:c.2688-13A= (SYNE1) | NP_001334631.1:n.2688-13A= | |
| XM_006715408.2:c.26289-13A= (SYNE1) | XP_006715471.1:n.26289-13A= | |
| XM_006715410.2:c.26259-13A= (SYNE1) | XP_006715473.1:n.26259-13A= | |
| XM_006715412.2:c.26244-13A= (SYNE1) | XP_006715475.1:n.26244-13A= | |
| XM_006715413.2:c.26232-13A= (SYNE1) | XP_006715476.1:n.26232-13A= | |
| XM_006715415.2:c.26190-13A= (SYNE1) | XP_006715478.1:n.26190-13A= | |
| XM_006715416.2:c.26175-13A= (SYNE1) | XP_006715479.1:n.26175-13A= | |
| XM_006715417.2:c.26160-13A= (SYNE1) | XP_006715480.1:n.26160-13A= | |
| XM_006715420.2:c.26148-13A= (SYNE1) | XP_006715483.1:n.26148-13A= | |
| XM_006715421.2:c.26145-13A= (SYNE1) | XP_006715484.1:n.26145-13A= | |
| XM_006715423.2:c.26242-13A= (SYNE1) | XP_006715486.1:n.26242-13A= | |
| XM_006715424.2:c.26200-13A= (SYNE1) | XP_006715487.1:n.26200-13A= | |
| XM_006715425.2:c.26131-13A= (SYNE1) | XP_006715488.1:n.26131-13A= | |
| XM_011535641.2:c.26298-13A= (SYNE1) | XP_011533943.1:n.26298-13A= | |
| XM_011535642.2:c.26286-13A= (SYNE1) | XP_011533944.1:n.26286-13A= | |
| XM_011535645.2:c.24069-13A= (SYNE1) | XP_011533947.1:n.24069-13A= | |
| XM_017010608.1:c.26301-13A= (SYNE1) | XP_016866097.1:n.26301-13A= | |
| XM_017010609.1:c.26301-13A= (SYNE1) | XP_016866098.1:n.26301-13A= | |
| XM_017010610.1:c.26280-13A= (SYNE1) | XP_016866099.1:n.26280-13A= | |
| XM_017010611.2:c.26274-13A= (SYNE1) | XP_016866100.1:n.26274-13A= | |
| XM_017010612.1:c.26223-13A= (SYNE1) | XP_016866101.1:n.26223-13A= | |
| XM_017010613.1:c.26187-13A= (SYNE1) | XP_016866102.1:n.26187-13A= | |
| XM_017010614.1:c.26145-13A= (SYNE1) | XP_016866103.1:n.26145-13A= | |
| XM_017010615.1:c.26034-13A= (SYNE1) | XP_016866104.1:n.26034-13A= | |
| XM_017010616.1:c.26173-13A= (SYNE1) | XP_016866105.1:n.26173-13A= | |
| XM_017010617.1:c.26128-13A= (SYNE1) | XP_016866106.1:n.26128-13A= | |
| XM_017010618.1:c.26116-13A= (SYNE1) | XP_016866107.1:n.26116-13A= | |
| XM_017010619.1:c.24576-13A= (SYNE1) | XP_016866108.1:n.24576-13A= | |
| NM_182961.4:c.26154-13A= (SYNE1) MANE Select | NP_892006.3:n.26154-13A= | |
| NM_001328100.2:c.851-2577T= (ESR1) | NP_001315029.1:n.851-2577T= | |
| NM_001347701.2:c.2701-13A= (SYNE1) | NP_001334630.1:n.2701-13A= | |
| NM_001347702.2:c.2688-13A= (SYNE1) MANE Plus Clinical | NP_001334631.1:n.2688-13A= | |
| NM_033071.5:c.26010-13A= (SYNE1) | NP_149062.2:n.26010-13A= |