Canonical Allele Identifier: CA1673189386

Linked Data

dbSNP Id: rs751164756

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122720C>A , CM000668.2:g.152122720C>A GRCh38
NC_000006.11:g.152443855C>A , CM000668.1:g.152443855C>A GRCh37
NC_000006.10:g.152485548C>A NCBI36
NG_012855.1:g.519680G>T
NG_008493.2:g.471030C>A
NG_012855.2:g.519680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2688-44G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:n.2688-44G>T
ENST00000367255.10:c.26154-44G>T (SYNE1) MANE Select ENSP00000356224.5:n.26154-44G>T
ENST00000423061.6:c.26010-44G>T (SYNE1) ENSP00000396024.1:n.26010-44G>T
ENST00000672154.1:c.1497-44G>T (SYNE1)
ENST00000672169.1:c.1872-44G>T (SYNE1)
ENST00000673173.1:c.1739-44G>T (SYNE1)
ENST00000673451.1:c.2004-44G>T (SYNE1) ENSP00000500189.1:n.2004-44G>T
ENST00000341594.9:c.24939-44G>T (SYNE1) ENSP00000341887.6:n.24939-44G>T
ENST00000347037.9:n.2902-44G>T (SYNE1)
ENST00000354674.4:c.2688-44G>T (SYNE1) ENSP00000346701.4:n.2688-44G>T
ENST00000367251.7:c.4930-44G>T (SYNE1) ENSP00000356220.3:n.4930-44G>T
ENST00000367255.9:c.26154-44G>T (SYNE1) ENSP00000356224.5:n.26154-44G>T
ENST00000367256.9:n.9846-44G>T (SYNE1)
ENST00000367257.8:c.4033-44G>T (SYNE1) ENSP00000356226.4:n.4033-44G>T
ENST00000409694.6:n.9738-44G>T (SYNE1)
ENST00000423061.5:c.26010-44G>T (SYNE1) ENSP00000396024.1:n.26010-44G>T
ENST00000427531.6:c.851-2546C>A (ESR1) ENSP00000394721.2:n.851-2546C>A
ENST00000460912.6:n.2768-44G>T (SYNE1)
ENST00000478916.5:n.6791-44G>T (SYNE1)
ENST00000536990.5:n.2932-44G>T (SYNE1)
ENST00000539504.5:c.2619-44G>T (SYNE1) ENSP00000441052.1:n.2619-44G>T
NM_033071.3:c.26010-44G>T (SYNE1) NP_149062.1:n.26010-44G>T
NM_182961.3:c.26154-44G>T (SYNE1) NP_892006.3:n.26154-44G>T
XM_006715407.1:c.26301-44G>T (SYNE1) XP_006715470.1:n.26301-44G>T
XM_006715408.1:c.26289-44G>T (SYNE1) XP_006715471.1:n.26289-44G>T
XM_006715409.1:c.26280-44G>T (SYNE1) XP_006715472.1:n.26280-44G>T
XM_006715410.1:c.26259-44G>T (SYNE1) XP_006715473.1:n.26259-44G>T
XM_006715411.1:c.26250-44G>T (SYNE1) XP_006715474.1:n.26250-44G>T
XM_006715412.1:c.26244-44G>T (SYNE1) XP_006715475.1:n.26244-44G>T
XM_006715413.1:c.26232-44G>T (SYNE1) XP_006715476.1:n.26232-44G>T
XM_006715414.1:c.26229-44G>T (SYNE1) XP_006715477.1:n.26229-44G>T
XM_006715415.1:c.26190-44G>T (SYNE1) XP_006715478.1:n.26190-44G>T
XM_006715416.1:c.26175-44G>T (SYNE1) XP_006715479.1:n.26175-44G>T
XM_006715417.1:c.26160-44G>T (SYNE1) XP_006715480.1:n.26160-44G>T
XM_006715420.1:c.26148-44G>T (SYNE1) XP_006715483.1:n.26148-44G>T
XM_006715421.1:c.26145-44G>T (SYNE1) XP_006715484.1:n.26145-44G>T
XM_006715422.1:c.26142-44G>T (SYNE1) XP_006715485.1:n.26142-44G>T
XM_006715423.1:c.26242-44G>T (SYNE1) XP_006715486.1:n.26242-44G>T
XM_006715424.1:c.26200-44G>T (SYNE1) XP_006715487.1:n.26200-44G>T
XM_006715425.1:c.26131-44G>T (SYNE1) XP_006715488.1:n.26131-44G>T
XM_011535641.1:c.26298-44G>T (SYNE1) XP_011533943.1:n.26298-44G>T
XM_011535642.1:c.26286-44G>T (SYNE1) XP_011533944.1:n.26286-44G>T
XM_011535643.1:c.26136-44G>T (SYNE1) XP_011533945.1:n.26136-44G>T
XM_011535644.1:c.24576-44G>T (SYNE1) XP_011533946.1:n.24576-44G>T
XM_011535645.1:c.24069-44G>T (SYNE1) XP_011533947.1:n.24069-44G>T
XM_011535647.1:c.19536-44G>T (SYNE1) XP_011533949.1:n.19536-44G>T
NM_001328100.1:c.851-2546C>A (ESR1) NP_001315029.1:n.851-2546C>A
NM_001347701.1:c.2701-44G>T (SYNE1) NP_001334630.1:n.2701-44G>T
NM_001347702.1:c.2688-44G>T (SYNE1) NP_001334631.1:n.2688-44G>T
XM_006715408.2:c.26289-44G>T (SYNE1) XP_006715471.1:n.26289-44G>T
XM_006715410.2:c.26259-44G>T (SYNE1) XP_006715473.1:n.26259-44G>T
XM_006715412.2:c.26244-44G>T (SYNE1) XP_006715475.1:n.26244-44G>T
XM_006715413.2:c.26232-44G>T (SYNE1) XP_006715476.1:n.26232-44G>T
XM_006715415.2:c.26190-44G>T (SYNE1) XP_006715478.1:n.26190-44G>T
XM_006715416.2:c.26175-44G>T (SYNE1) XP_006715479.1:n.26175-44G>T
XM_006715417.2:c.26160-44G>T (SYNE1) XP_006715480.1:n.26160-44G>T
XM_006715420.2:c.26148-44G>T (SYNE1) XP_006715483.1:n.26148-44G>T
XM_006715421.2:c.26145-44G>T (SYNE1) XP_006715484.1:n.26145-44G>T
XM_006715423.2:c.26242-44G>T (SYNE1) XP_006715486.1:n.26242-44G>T
XM_006715424.2:c.26200-44G>T (SYNE1) XP_006715487.1:n.26200-44G>T
XM_006715425.2:c.26131-44G>T (SYNE1) XP_006715488.1:n.26131-44G>T
XM_011535641.2:c.26298-44G>T (SYNE1) XP_011533943.1:n.26298-44G>T
XM_011535642.2:c.26286-44G>T (SYNE1) XP_011533944.1:n.26286-44G>T
XM_011535645.2:c.24069-44G>T (SYNE1) XP_011533947.1:n.24069-44G>T
XM_017010608.1:c.26301-44G>T (SYNE1) XP_016866097.1:n.26301-44G>T
XM_017010609.1:c.26301-44G>T (SYNE1) XP_016866098.1:n.26301-44G>T
XM_017010610.1:c.26280-44G>T (SYNE1) XP_016866099.1:n.26280-44G>T
XM_017010611.2:c.26274-44G>T (SYNE1) XP_016866100.1:n.26274-44G>T
XM_017010612.1:c.26223-44G>T (SYNE1) XP_016866101.1:n.26223-44G>T
XM_017010613.1:c.26187-44G>T (SYNE1) XP_016866102.1:n.26187-44G>T
XM_017010614.1:c.26145-44G>T (SYNE1) XP_016866103.1:n.26145-44G>T
XM_017010615.1:c.26034-44G>T (SYNE1) XP_016866104.1:n.26034-44G>T
XM_017010616.1:c.26173-44G>T (SYNE1) XP_016866105.1:n.26173-44G>T
XM_017010617.1:c.26128-44G>T (SYNE1) XP_016866106.1:n.26128-44G>T
XM_017010618.1:c.26116-44G>T (SYNE1) XP_016866107.1:n.26116-44G>T
XM_017010619.1:c.24576-44G>T (SYNE1) XP_016866108.1:n.24576-44G>T
NM_182961.4:c.26154-44G>T (SYNE1) MANE Select NP_892006.3:n.26154-44G>T
NM_001328100.2:c.851-2546C>A (ESR1) NP_001315029.1:n.851-2546C>A
NM_001347701.2:c.2701-44G>T (SYNE1) NP_001334630.1:n.2701-44G>T
NM_001347702.2:c.2688-44G>T (SYNE1) MANE Plus Clinical NP_001334631.1:n.2688-44G>T
NM_033071.5:c.26010-44G>T (SYNE1) NP_149062.2:n.26010-44G>T