Canonical Allele Identifier: CA366080597

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461222T>A (hg19) ; chr6:g.152140087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140087T>A , CM000668.2:g.152140087T>A	GRCh38
NC_000006.11:g.152461222T>A , CM000668.1:g.152461222T>A	GRCh37
NC_000006.10:g.152502915T>A	NCBI36
NG_012855.1:g.502313A>T
NG_012855.2:g.502313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1855A>T MANE Plus Clinical	ENSP00000346701.4:p.Lys619Ter
ENST00000367255.10:c.25321A>T MANE Select	ENSP00000356224.5:p.Lys8441Ter
ENST00000423061.6:c.25177A>T	ENSP00000396024.1:p.Lys8393Ter
ENST00000672154.1:c.723A>T
ENST00000672169.1:c.1056A>T
ENST00000673173.1:c.965A>T
ENST00000673451.1:c.1093A>T	ENSP00000500189.1:p.Lys365Ter
ENST00000341594.9:c.24106A>T	ENSP00000341887.6:p.Lys8036Ter
ENST00000347037.9:n.2069A>T
ENST00000354674.4:c.1855A>T	ENSP00000346701.4:p.Lys619Ter
ENST00000367251.7:c.4156A>T	ENSP00000356220.3:p.Lys1386Ter
ENST00000367255.9:c.25321A>T	ENSP00000356224.5:p.Lys8441Ter
ENST00000367256.9:n.9013A>T
ENST00000367257.8:c.3259A>T	ENSP00000356226.4:p.Lys1087Ter
ENST00000409694.6:n.8905A>T
ENST00000423061.5:c.25177A>T	ENSP00000396024.1:p.Lys8393Ter
ENST00000460912.6:n.1935A>T
ENST00000478916.5:n.4343A>T
ENST00000536990.5:n.2158A>T
ENST00000539504.5:c.1786A>T	ENSP00000441052.1:p.Lys596Ter
NM_033071.3:c.25177A>T	NP_149062.1:p.Lys8393Ter
NM_182961.3:c.25321A>T	NP_892006.3:p.Lys8441Ter
XM_006715407.1:c.25426A>T	XP_006715470.1:p.Lys8476Ter
XM_006715408.1:c.25414A>T	XP_006715471.1:p.Lys8472Ter
XM_006715409.1:c.25405A>T	XP_006715472.1:p.Lys8469Ter
XM_006715410.1:c.25426A>T	XP_006715473.1:p.Lys8476Ter
XM_006715411.1:c.25375A>T	XP_006715474.1:p.Lys8459Ter
XM_006715412.1:c.25411A>T	XP_006715475.1:p.Lys8471Ter
XM_006715413.1:c.25357A>T	XP_006715476.1:p.Lys8453Ter
XM_006715414.1:c.25354A>T	XP_006715477.1:p.Lys8452Ter
XM_006715415.1:c.25357A>T	XP_006715478.1:p.Lys8453Ter
XM_006715416.1:c.25342A>T	XP_006715479.1:p.Lys8448Ter
XM_006715417.1:c.25285A>T	XP_006715480.1:p.Lys8429Ter
XM_006715420.1:c.25273A>T	XP_006715483.1:p.Lys8425Ter
XM_006715421.1:c.25270A>T	XP_006715484.1:p.Lys8424Ter
XM_006715422.1:c.25267A>T	XP_006715485.1:p.Lys8423Ter
XM_006715423.1:c.25426A>T	XP_006715486.1:p.Lys8476Ter
XM_006715424.1:c.25426A>T	XP_006715487.1:p.Lys8476Ter
XM_006715425.1:c.25357A>T	XP_006715488.1:p.Lys8453Ter
XM_011535641.1:c.25423A>T	XP_011533943.1:p.Lys8475Ter
XM_011535642.1:c.25411A>T	XP_011533944.1:p.Lys8471Ter
XM_011535643.1:c.25261A>T	XP_011533945.1:p.Lys8421Ter
XM_011535644.1:c.23701A>T	XP_011533946.1:p.Lys7901Ter
XM_011535645.1:c.23194A>T	XP_011533947.1:p.Lys7732Ter
XM_011535647.1:c.18661A>T	XP_011533949.1:p.Lys6221Ter
NM_001347701.1:c.1927A>T	NP_001334630.1:p.Lys643Ter
NM_001347702.1:c.1855A>T	NP_001334631.1:p.Lys619Ter
XM_006715408.2:c.25414A>T	XP_006715471.1:p.Lys8472Ter
XM_006715410.2:c.25426A>T	XP_006715473.1:p.Lys8476Ter
XM_006715412.2:c.25411A>T	XP_006715475.1:p.Lys8471Ter
XM_006715413.2:c.25357A>T	XP_006715476.1:p.Lys8453Ter
XM_006715415.2:c.25357A>T	XP_006715478.1:p.Lys8453Ter
XM_006715416.2:c.25342A>T	XP_006715479.1:p.Lys8448Ter
XM_006715417.2:c.25285A>T	XP_006715480.1:p.Lys8429Ter
XM_006715420.2:c.25273A>T	XP_006715483.1:p.Lys8425Ter
XM_006715421.2:c.25270A>T	XP_006715484.1:p.Lys8424Ter
XM_006715423.2:c.25426A>T	XP_006715486.1:p.Lys8476Ter
XM_006715424.2:c.25426A>T	XP_006715487.1:p.Lys8476Ter
XM_006715425.2:c.25357A>T	XP_006715488.1:p.Lys8453Ter
XM_011535641.2:c.25423A>T	XP_011533943.1:p.Lys8475Ter
XM_011535642.2:c.25411A>T	XP_011533944.1:p.Lys8471Ter
XM_011535645.2:c.23194A>T	XP_011533947.1:p.Lys7732Ter
XM_017010608.1:c.25426A>T	XP_016866097.1:p.Lys8476Ter
XM_017010609.1:c.25426A>T	XP_016866098.1:p.Lys8476Ter
XM_017010610.1:c.25405A>T	XP_016866099.1:p.Lys8469Ter
XM_017010611.2:c.25399A>T	XP_016866100.1:p.Lys8467Ter
XM_017010612.1:c.25348A>T	XP_016866101.1:p.Lys8450Ter
XM_017010613.1:c.25354A>T	XP_016866102.1:p.Lys8452Ter
XM_017010614.1:c.25270A>T	XP_016866103.1:p.Lys8424Ter
XM_017010615.1:c.25201A>T	XP_016866104.1:p.Lys8401Ter
XM_017010616.1:c.25357A>T	XP_016866105.1:p.Lys8453Ter
XM_017010617.1:c.25354A>T	XP_016866106.1:p.Lys8452Ter
XM_017010618.1:c.25342A>T	XP_016866107.1:p.Lys8448Ter
XM_017010619.1:c.23701A>T	XP_016866108.1:p.Lys7901Ter
NM_182961.4:c.25321A>T MANE Select	NP_892006.3:p.Lys8441Ter
NM_001347701.2:c.1927A>T	NP_001334630.1:p.Lys643Ter
NM_001347702.2:c.1855A>T MANE Plus Clinical	NP_001334631.1:p.Lys619Ter
NM_033071.5:c.25177A>T	NP_149062.2:p.Lys8393Ter