UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122627G>T , CM000668.2:g.152122627G>T | GRCh38 |
| NC_000006.11:g.152443762G>T , CM000668.1:g.152443762G>T | GRCh37 |
| NC_000006.10:g.152485455G>T | NCBI36 |
| NG_012855.1:g.519773C>A | |
| NG_008493.2:g.470937G>T | |
| NG_012855.2:g.519773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2737C>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Arg913= | |
| ENST00000367255.10:c.26203C>A (SYNE1) MANE Select | ENSP00000356224.5:p.Arg8735= | |
| ENST00000423061.6:c.26059C>A (SYNE1) | ENSP00000396024.1:p.Arg8687= | |
| ENST00000672154.1:c.1546C>A (SYNE1) | ||
| ENST00000672169.1:c.1921C>A (SYNE1) | ||
| ENST00000673173.1:c.1788C>A (SYNE1) | ||
| ENST00000673451.1:c.2053C>A (SYNE1) | ENSP00000500189.1:n.2053C>A | |
| ENST00000341594.9:c.24988C>A (SYNE1) | ENSP00000341887.6:p.Arg8330= | |
| ENST00000347037.9:n.2951C>A (SYNE1) | ||
| ENST00000354674.4:c.2737C>A (SYNE1) | ENSP00000346701.4:p.Arg913= | |
| ENST00000367251.7:c.4979C>A (SYNE1) | ENSP00000356220.3:n.4979C>A | |
| ENST00000367255.9:c.26203C>A (SYNE1) | ENSP00000356224.5:p.Arg8735= | |
| ENST00000367256.9:n.9895C>A (SYNE1) | ||
| ENST00000367257.8:c.4082C>A (SYNE1) | ENSP00000356226.4:n.4082C>A | |
| ENST00000409694.6:n.9787C>A (SYNE1) | ||
| ENST00000423061.5:c.26059C>A (SYNE1) | ENSP00000396024.1:p.Arg8687= | |
| ENST00000427531.6:c.851-2639G>T (ESR1) | ENSP00000394721.2:n.851-2639G>T | |
| ENST00000460912.6:n.2817C>A (SYNE1) | ||
| ENST00000478916.5:n.6840C>A (SYNE1) | ||
| ENST00000536990.5:n.2981C>A (SYNE1) | ||
| ENST00000539504.5:c.2668C>A (SYNE1) | ENSP00000441052.1:p.Arg890= | |
| NM_033071.3:c.26059C>A (SYNE1) | NP_149062.1:p.Arg8687= | |
| NM_182961.3:c.26203C>A (SYNE1) | NP_892006.3:p.Arg8735= | |
| XM_006715407.1:c.26350C>A (SYNE1) | XP_006715470.1:p.Arg8784= | |
| XM_006715408.1:c.26338C>A (SYNE1) | XP_006715471.1:p.Arg8780= | |
| XM_006715409.1:c.26329C>A (SYNE1) | XP_006715472.1:p.Arg8777= | |
| XM_006715410.1:c.26308C>A (SYNE1) | XP_006715473.1:p.Arg8770= | |
| XM_006715411.1:c.26299C>A (SYNE1) | XP_006715474.1:p.Arg8767= | |
| XM_006715412.1:c.26293C>A (SYNE1) | XP_006715475.1:p.Arg8765= | |
| XM_006715413.1:c.26281C>A (SYNE1) | XP_006715476.1:p.Arg8761= | |
| XM_006715414.1:c.26278C>A (SYNE1) | XP_006715477.1:p.Arg8760= | |
| XM_006715415.1:c.26239C>A (SYNE1) | XP_006715478.1:p.Arg8747= | |
| XM_006715416.1:c.26224C>A (SYNE1) | XP_006715479.1:p.Arg8742= | |
| XM_006715417.1:c.26209C>A (SYNE1) | XP_006715480.1:p.Arg8737= | |
| XM_006715420.1:c.26197C>A (SYNE1) | XP_006715483.1:p.Arg8733= | |
| XM_006715421.1:c.26194C>A (SYNE1) | XP_006715484.1:p.Arg8732= | |
| XM_006715422.1:c.26191C>A (SYNE1) | XP_006715485.1:p.Arg8731= | |
| XM_006715423.1:c.*14C>A (SYNE1) | XP_006715486.1:n.*14C>A | |
| XM_006715424.1:c.*14C>A (SYNE1) | XP_006715487.1:n.*14C>A | |
| XM_006715425.1:c.*14C>A (SYNE1) | XP_006715488.1:n.*14C>A | |
| XM_011535641.1:c.26347C>A (SYNE1) | XP_011533943.1:p.Arg8783= | |
| XM_011535642.1:c.26335C>A (SYNE1) | XP_011533944.1:p.Arg8779= | |
| XM_011535643.1:c.26185C>A (SYNE1) | XP_011533945.1:p.Arg8729= | |
| XM_011535644.1:c.24625C>A (SYNE1) | XP_011533946.1:p.Arg8209= | |
| XM_011535645.1:c.24118C>A (SYNE1) | XP_011533947.1:p.Arg8040= | |
| XM_011535647.1:c.19585C>A (SYNE1) | XP_011533949.1:p.Arg6529= | |
| NM_001328100.1:c.851-2639G>T (ESR1) | NP_001315029.1:n.851-2639G>T | |
| NM_001347701.1:c.*14C>A (SYNE1) | NP_001334630.1:n.*14C>A | |
| NM_001347702.1:c.2737C>A (SYNE1) | NP_001334631.1:p.Arg913= | |
| XM_006715408.2:c.26338C>A (SYNE1) | XP_006715471.1:p.Arg8780= | |
| XM_006715410.2:c.26308C>A (SYNE1) | XP_006715473.1:p.Arg8770= | |
| XM_006715412.2:c.26293C>A (SYNE1) | XP_006715475.1:p.Arg8765= | |
| XM_006715413.2:c.26281C>A (SYNE1) | XP_006715476.1:p.Arg8761= | |
| XM_006715415.2:c.26239C>A (SYNE1) | XP_006715478.1:p.Arg8747= | |
| XM_006715416.2:c.26224C>A (SYNE1) | XP_006715479.1:p.Arg8742= | |
| XM_006715417.2:c.26209C>A (SYNE1) | XP_006715480.1:p.Arg8737= | |
| XM_006715420.2:c.26197C>A (SYNE1) | XP_006715483.1:p.Arg8733= | |
| XM_006715421.2:c.26194C>A (SYNE1) | XP_006715484.1:p.Arg8732= | |
| XM_006715423.2:c.*14C>A (SYNE1) | XP_006715486.1:n.*14C>A | |
| XM_006715424.2:c.*14C>A (SYNE1) | XP_006715487.1:n.*14C>A | |
| XM_006715425.2:c.*14C>A (SYNE1) | XP_006715488.1:n.*14C>A | |
| XM_011535641.2:c.26347C>A (SYNE1) | XP_011533943.1:p.Arg8783= | |
| XM_011535642.2:c.26335C>A (SYNE1) | XP_011533944.1:p.Arg8779= | |
| XM_011535645.2:c.24118C>A (SYNE1) | XP_011533947.1:p.Arg8040= | |
| XM_017010608.1:c.26350C>A (SYNE1) | XP_016866097.1:p.Arg8784= | |
| XM_017010609.1:c.26350C>A (SYNE1) | XP_016866098.1:p.Arg8784= | |
| XM_017010610.1:c.26329C>A (SYNE1) | XP_016866099.1:p.Arg8777= | |
| XM_017010611.2:c.26323C>A (SYNE1) | XP_016866100.1:p.Arg8775= | |
| XM_017010612.1:c.26272C>A (SYNE1) | XP_016866101.1:p.Arg8758= | |
| XM_017010613.1:c.26236C>A (SYNE1) | XP_016866102.1:p.Arg8746= | |
| XM_017010614.1:c.26194C>A (SYNE1) | XP_016866103.1:p.Arg8732= | |
| XM_017010615.1:c.26083C>A (SYNE1) | XP_016866104.1:p.Arg8695= | |
| XM_017010616.1:c.*14C>A (SYNE1) | XP_016866105.1:n.*14C>A | |
| XM_017010617.1:c.*14C>A (SYNE1) | XP_016866106.1:n.*14C>A | |
| XM_017010618.1:c.*14C>A (SYNE1) | XP_016866107.1:n.*14C>A | |
| XM_017010619.1:c.24625C>A (SYNE1) | XP_016866108.1:p.Arg8209= | |
| NM_182961.4:c.26203C>A (SYNE1) MANE Select | NP_892006.3:p.Arg8735= | |
| NM_001328100.2:c.851-2639G>T (ESR1) | NP_001315029.1:n.851-2639G>T | |
| NM_001347701.2:c.*14C>A (SYNE1) | NP_001334630.1:n.*14C>A | |
| NM_001347702.2:c.2737C>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Arg913= | |
| NM_033071.5:c.26059C>A (SYNE1) | NP_149062.2:p.Arg8687= |