Canonical Allele Identifier: CA366080371

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461189T>A (hg19) ; chr6:g.152140054T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1888A>T MANE Plus Clinical	ENSP00000346701.4:p.Ile630Phe
ENST00000367255.10:c.25354A>T MANE Select	ENSP00000356224.5:p.Ile8452Phe
ENST00000423061.6:c.25210A>T	ENSP00000396024.1:p.Ile8404Phe
ENST00000672154.1:c.756A>T
ENST00000672169.1:c.1089A>T
ENST00000673173.1:c.998A>T
ENST00000673451.1:c.1126A>T	ENSP00000500189.1:p.Ile376Phe
ENST00000341594.9:c.24139A>T	ENSP00000341887.6:p.Ile8047Phe
ENST00000347037.9:n.2102A>T
ENST00000354674.4:c.1888A>T	ENSP00000346701.4:p.Ile630Phe
ENST00000367251.7:c.4189A>T	ENSP00000356220.3:p.Ile1397Phe
ENST00000367255.9:c.25354A>T	ENSP00000356224.5:p.Ile8452Phe
ENST00000367256.9:n.9046A>T
ENST00000367257.8:c.3292A>T	ENSP00000356226.4:p.Ile1098Phe
ENST00000409694.6:n.8938A>T
ENST00000423061.5:c.25210A>T	ENSP00000396024.1:p.Ile8404Phe
ENST00000460912.6:n.1968A>T
ENST00000478916.5:n.4376A>T
ENST00000536990.5:n.2191A>T
ENST00000539504.5:c.1819A>T	ENSP00000441052.1:p.Ile607Phe
NM_033071.3:c.25210A>T	NP_149062.1:p.Ile8404Phe
NM_182961.3:c.25354A>T	NP_892006.3:p.Ile8452Phe
XM_006715407.1:c.25459A>T	XP_006715470.1:p.Ile8487Phe
XM_006715408.1:c.25447A>T	XP_006715471.1:p.Ile8483Phe
XM_006715409.1:c.25438A>T	XP_006715472.1:p.Ile8480Phe
XM_006715410.1:c.25459A>T	XP_006715473.1:p.Ile8487Phe
XM_006715411.1:c.25408A>T	XP_006715474.1:p.Ile8470Phe
XM_006715412.1:c.25444A>T	XP_006715475.1:p.Ile8482Phe
XM_006715413.1:c.25390A>T	XP_006715476.1:p.Ile8464Phe
XM_006715414.1:c.25387A>T	XP_006715477.1:p.Ile8463Phe
XM_006715415.1:c.25390A>T	XP_006715478.1:p.Ile8464Phe
XM_006715416.1:c.25375A>T	XP_006715479.1:p.Ile8459Phe
XM_006715417.1:c.25318A>T	XP_006715480.1:p.Ile8440Phe
XM_006715420.1:c.25306A>T	XP_006715483.1:p.Ile8436Phe
XM_006715421.1:c.25303A>T	XP_006715484.1:p.Ile8435Phe
XM_006715422.1:c.25300A>T	XP_006715485.1:p.Ile8434Phe
XM_006715423.1:c.25459A>T	XP_006715486.1:p.Ile8487Phe
XM_006715424.1:c.25459A>T	XP_006715487.1:p.Ile8487Phe
XM_006715425.1:c.25390A>T	XP_006715488.1:p.Ile8464Phe
XM_011535641.1:c.25456A>T	XP_011533943.1:p.Ile8486Phe
XM_011535642.1:c.25444A>T	XP_011533944.1:p.Ile8482Phe
XM_011535643.1:c.25294A>T	XP_011533945.1:p.Ile8432Phe
XM_011535644.1:c.23734A>T	XP_011533946.1:p.Ile7912Phe
XM_011535645.1:c.23227A>T	XP_011533947.1:p.Ile7743Phe
XM_011535647.1:c.18694A>T	XP_011533949.1:p.Ile6232Phe
NM_001347701.1:c.1960A>T	NP_001334630.1:p.Ile654Phe
NM_001347702.1:c.1888A>T	NP_001334631.1:p.Ile630Phe
XM_006715408.2:c.25447A>T	XP_006715471.1:p.Ile8483Phe
XM_006715410.2:c.25459A>T	XP_006715473.1:p.Ile8487Phe
XM_006715412.2:c.25444A>T	XP_006715475.1:p.Ile8482Phe
XM_006715413.2:c.25390A>T	XP_006715476.1:p.Ile8464Phe
XM_006715415.2:c.25390A>T	XP_006715478.1:p.Ile8464Phe
XM_006715416.2:c.25375A>T	XP_006715479.1:p.Ile8459Phe
XM_006715417.2:c.25318A>T	XP_006715480.1:p.Ile8440Phe
XM_006715420.2:c.25306A>T	XP_006715483.1:p.Ile8436Phe
XM_006715421.2:c.25303A>T	XP_006715484.1:p.Ile8435Phe
XM_006715423.2:c.25459A>T	XP_006715486.1:p.Ile8487Phe
XM_006715424.2:c.25459A>T	XP_006715487.1:p.Ile8487Phe
XM_006715425.2:c.25390A>T	XP_006715488.1:p.Ile8464Phe
XM_011535641.2:c.25456A>T	XP_011533943.1:p.Ile8486Phe
XM_011535642.2:c.25444A>T	XP_011533944.1:p.Ile8482Phe
XM_011535645.2:c.23227A>T	XP_011533947.1:p.Ile7743Phe
XM_017010608.1:c.25459A>T	XP_016866097.1:p.Ile8487Phe
XM_017010609.1:c.25459A>T	XP_016866098.1:p.Ile8487Phe
XM_017010610.1:c.25438A>T	XP_016866099.1:p.Ile8480Phe
XM_017010611.2:c.25432A>T	XP_016866100.1:p.Ile8478Phe
XM_017010612.1:c.25381A>T	XP_016866101.1:p.Ile8461Phe
XM_017010613.1:c.25387A>T	XP_016866102.1:p.Ile8463Phe
XM_017010614.1:c.25303A>T	XP_016866103.1:p.Ile8435Phe
XM_017010615.1:c.25234A>T	XP_016866104.1:p.Ile8412Phe
XM_017010616.1:c.25390A>T	XP_016866105.1:p.Ile8464Phe
XM_017010617.1:c.25387A>T	XP_016866106.1:p.Ile8463Phe
XM_017010618.1:c.25375A>T	XP_016866107.1:p.Ile8459Phe
XM_017010619.1:c.23734A>T	XP_016866108.1:p.Ile7912Phe
NM_182961.4:c.25354A>T MANE Select	NP_892006.3:p.Ile8452Phe
NM_001347701.2:c.1960A>T	NP_001334630.1:p.Ile654Phe
NM_001347702.2:c.1888A>T MANE Plus Clinical	NP_001334631.1:p.Ile630Phe
NM_033071.5:c.25210A>T	NP_149062.2:p.Ile8404Phe