Canonical Allele Identifier: CA4052863

Gene: SYNE1

Linked Data

• dbSNP Id: rs570985950
• ExAC: 6:152461189 T / C
• gnomAD v2: 6-152461189-T-C
• gnomAD v3: 6-152140054-T-C
• gnomAD v4: 6-152140054-T-C
• MyVariant Identifiers: chr6:g.152461189T>C (hg19) ; chr6:g.152140054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140054T>C , CM000668.2:g.152140054T>C	GRCh38
NC_000006.11:g.152461189T>C , CM000668.1:g.152461189T>C	GRCh37
NC_000006.10:g.152502882T>C	NCBI36
NG_012855.1:g.502346A>G
NG_012855.2:g.502346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1888A>G MANE Plus Clinical	ENSP00000346701.4:p.Ile630Val
ENST00000367255.10:c.25354A>G MANE Select	ENSP00000356224.5:p.Ile8452Val
ENST00000423061.6:c.25210A>G	ENSP00000396024.1:p.Ile8404Val
ENST00000672154.1:c.756A>G
ENST00000672169.1:c.1089A>G
ENST00000673173.1:c.998A>G
ENST00000673451.1:c.1126A>G	ENSP00000500189.1:p.Ile376Val
ENST00000341594.9:c.24139A>G	ENSP00000341887.6:p.Ile8047Val
ENST00000347037.9:n.2102A>G
ENST00000354674.4:c.1888A>G	ENSP00000346701.4:p.Ile630Val
ENST00000367251.7:c.4189A>G	ENSP00000356220.3:p.Ile1397Val
ENST00000367255.9:c.25354A>G	ENSP00000356224.5:p.Ile8452Val
ENST00000367256.9:n.9046A>G
ENST00000367257.8:c.3292A>G	ENSP00000356226.4:p.Ile1098Val
ENST00000409694.6:n.8938A>G
ENST00000423061.5:c.25210A>G	ENSP00000396024.1:p.Ile8404Val
ENST00000460912.6:n.1968A>G
ENST00000478916.5:n.4376A>G
ENST00000536990.5:n.2191A>G
ENST00000539504.5:c.1819A>G	ENSP00000441052.1:p.Ile607Val
NM_033071.3:c.25210A>G	NP_149062.1:p.Ile8404Val
NM_182961.3:c.25354A>G	NP_892006.3:p.Ile8452Val
XM_006715407.1:c.25459A>G	XP_006715470.1:p.Ile8487Val
XM_006715408.1:c.25447A>G	XP_006715471.1:p.Ile8483Val
XM_006715409.1:c.25438A>G	XP_006715472.1:p.Ile8480Val
XM_006715410.1:c.25459A>G	XP_006715473.1:p.Ile8487Val
XM_006715411.1:c.25408A>G	XP_006715474.1:p.Ile8470Val
XM_006715412.1:c.25444A>G	XP_006715475.1:p.Ile8482Val
XM_006715413.1:c.25390A>G	XP_006715476.1:p.Ile8464Val
XM_006715414.1:c.25387A>G	XP_006715477.1:p.Ile8463Val
XM_006715415.1:c.25390A>G	XP_006715478.1:p.Ile8464Val
XM_006715416.1:c.25375A>G	XP_006715479.1:p.Ile8459Val
XM_006715417.1:c.25318A>G	XP_006715480.1:p.Ile8440Val
XM_006715420.1:c.25306A>G	XP_006715483.1:p.Ile8436Val
XM_006715421.1:c.25303A>G	XP_006715484.1:p.Ile8435Val
XM_006715422.1:c.25300A>G	XP_006715485.1:p.Ile8434Val
XM_006715423.1:c.25459A>G	XP_006715486.1:p.Ile8487Val
XM_006715424.1:c.25459A>G	XP_006715487.1:p.Ile8487Val
XM_006715425.1:c.25390A>G	XP_006715488.1:p.Ile8464Val
XM_011535641.1:c.25456A>G	XP_011533943.1:p.Ile8486Val
XM_011535642.1:c.25444A>G	XP_011533944.1:p.Ile8482Val
XM_011535643.1:c.25294A>G	XP_011533945.1:p.Ile8432Val
XM_011535644.1:c.23734A>G	XP_011533946.1:p.Ile7912Val
XM_011535645.1:c.23227A>G	XP_011533947.1:p.Ile7743Val
XM_011535647.1:c.18694A>G	XP_011533949.1:p.Ile6232Val
NM_001347701.1:c.1960A>G	NP_001334630.1:p.Ile654Val
NM_001347702.1:c.1888A>G	NP_001334631.1:p.Ile630Val
XM_006715408.2:c.25447A>G	XP_006715471.1:p.Ile8483Val
XM_006715410.2:c.25459A>G	XP_006715473.1:p.Ile8487Val
XM_006715412.2:c.25444A>G	XP_006715475.1:p.Ile8482Val
XM_006715413.2:c.25390A>G	XP_006715476.1:p.Ile8464Val
XM_006715415.2:c.25390A>G	XP_006715478.1:p.Ile8464Val
XM_006715416.2:c.25375A>G	XP_006715479.1:p.Ile8459Val
XM_006715417.2:c.25318A>G	XP_006715480.1:p.Ile8440Val
XM_006715420.2:c.25306A>G	XP_006715483.1:p.Ile8436Val
XM_006715421.2:c.25303A>G	XP_006715484.1:p.Ile8435Val
XM_006715423.2:c.25459A>G	XP_006715486.1:p.Ile8487Val
XM_006715424.2:c.25459A>G	XP_006715487.1:p.Ile8487Val
XM_006715425.2:c.25390A>G	XP_006715488.1:p.Ile8464Val
XM_011535641.2:c.25456A>G	XP_011533943.1:p.Ile8486Val
XM_011535642.2:c.25444A>G	XP_011533944.1:p.Ile8482Val
XM_011535645.2:c.23227A>G	XP_011533947.1:p.Ile7743Val
XM_017010608.1:c.25459A>G	XP_016866097.1:p.Ile8487Val
XM_017010609.1:c.25459A>G	XP_016866098.1:p.Ile8487Val
XM_017010610.1:c.25438A>G	XP_016866099.1:p.Ile8480Val
XM_017010611.2:c.25432A>G	XP_016866100.1:p.Ile8478Val
XM_017010612.1:c.25381A>G	XP_016866101.1:p.Ile8461Val
XM_017010613.1:c.25387A>G	XP_016866102.1:p.Ile8463Val
XM_017010614.1:c.25303A>G	XP_016866103.1:p.Ile8435Val
XM_017010615.1:c.25234A>G	XP_016866104.1:p.Ile8412Val
XM_017010616.1:c.25390A>G	XP_016866105.1:p.Ile8464Val
XM_017010617.1:c.25387A>G	XP_016866106.1:p.Ile8463Val
XM_017010618.1:c.25375A>G	XP_016866107.1:p.Ile8459Val
XM_017010619.1:c.23734A>G	XP_016866108.1:p.Ile7912Val
NM_182961.4:c.25354A>G MANE Select	NP_892006.3:p.Ile8452Val
NM_001347701.2:c.1960A>G	NP_001334630.1:p.Ile654Val
NM_001347702.2:c.1888A>G MANE Plus Clinical	NP_001334631.1:p.Ile630Val
NM_033071.5:c.25210A>G	NP_149062.2:p.Ile8404Val