Canonical Allele Identifier: CA366083280

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464873A>C (hg19) ; chr6:g.152143738A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143738A>C , CM000668.2:g.152143738A>C	GRCh38
NC_000006.11:g.152464873A>C , CM000668.1:g.152464873A>C	GRCh37
NC_000006.10:g.152506566A>C	NCBI36
NG_012855.1:g.498662T>G
NG_012855.2:g.498662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1538T>G MANE Plus Clinical	ENSP00000346701.4:p.Ile513Ser
ENST00000367255.10:c.25004T>G MANE Select	ENSP00000356224.5:p.Ile8335Ser
ENST00000423061.6:c.24860T>G	ENSP00000396024.1:p.Ile8287Ser
ENST00000672154.1:c.406T>G
ENST00000672169.1:c.739T>G
ENST00000673173.1:c.891-3577T>G
ENST00000673451.1:c.776T>G	ENSP00000500189.1:p.Ile259Ser
ENST00000341594.9:c.23789T>G	ENSP00000341887.6:p.Ile7930Ser
ENST00000347037.9:n.1752T>G
ENST00000354674.4:c.1538T>G	ENSP00000346701.4:p.Ile513Ser
ENST00000367251.7:c.3839T>G	ENSP00000356220.3:p.Ile1280Ser
ENST00000367255.9:c.25004T>G	ENSP00000356224.5:p.Ile8335Ser
ENST00000367256.9:n.8696T>G
ENST00000367257.8:c.2942T>G	ENSP00000356226.4:p.Ile981Ser
ENST00000409694.6:n.8588T>G
ENST00000423061.5:c.24860T>G	ENSP00000396024.1:p.Ile8287Ser
ENST00000460912.6:n.1618T>G
ENST00000478916.5:n.4026T>G
ENST00000536990.5:n.1841T>G
ENST00000539504.5:c.1469T>G	ENSP00000441052.1:p.Ile490Ser
NM_033071.3:c.24860T>G	NP_149062.1:p.Ile8287Ser
NM_182961.3:c.25004T>G	NP_892006.3:p.Ile8335Ser
XM_006715407.1:c.25109T>G	XP_006715470.1:p.Ile8370Ser
XM_006715408.1:c.25097T>G	XP_006715471.1:p.Ile8366Ser
XM_006715409.1:c.25088T>G	XP_006715472.1:p.Ile8363Ser
XM_006715410.1:c.25109T>G	XP_006715473.1:p.Ile8370Ser
XM_006715411.1:c.25058T>G	XP_006715474.1:p.Ile8353Ser
XM_006715412.1:c.25094T>G	XP_006715475.1:p.Ile8365Ser
XM_006715413.1:c.25040T>G	XP_006715476.1:p.Ile8347Ser
XM_006715414.1:c.25037T>G	XP_006715477.1:p.Ile8346Ser
XM_006715415.1:c.25040T>G	XP_006715478.1:p.Ile8347Ser
XM_006715416.1:c.25025T>G	XP_006715479.1:p.Ile8342Ser
XM_006715417.1:c.24968T>G	XP_006715480.1:p.Ile8323Ser
XM_006715420.1:c.24956T>G	XP_006715483.1:p.Ile8319Ser
XM_006715421.1:c.24953T>G	XP_006715484.1:p.Ile8318Ser
XM_006715422.1:c.24950T>G	XP_006715485.1:p.Ile8317Ser
XM_006715423.1:c.25109T>G	XP_006715486.1:p.Ile8370Ser
XM_006715424.1:c.25109T>G	XP_006715487.1:p.Ile8370Ser
XM_006715425.1:c.25040T>G	XP_006715488.1:p.Ile8347Ser
XM_011535641.1:c.25106T>G	XP_011533943.1:p.Ile8369Ser
XM_011535642.1:c.25094T>G	XP_011533944.1:p.Ile8365Ser
XM_011535643.1:c.24944T>G	XP_011533945.1:p.Ile8315Ser
XM_011535644.1:c.23384T>G	XP_011533946.1:p.Ile7795Ser
XM_011535645.1:c.22877T>G	XP_011533947.1:p.Ile7626Ser
XM_011535647.1:c.18344T>G	XP_011533949.1:p.Ile6115Ser
NM_001347701.1:c.1610T>G	NP_001334630.1:p.Ile537Ser
NM_001347702.1:c.1538T>G	NP_001334631.1:p.Ile513Ser
XM_006715408.2:c.25097T>G	XP_006715471.1:p.Ile8366Ser
XM_006715410.2:c.25109T>G	XP_006715473.1:p.Ile8370Ser
XM_006715412.2:c.25094T>G	XP_006715475.1:p.Ile8365Ser
XM_006715413.2:c.25040T>G	XP_006715476.1:p.Ile8347Ser
XM_006715415.2:c.25040T>G	XP_006715478.1:p.Ile8347Ser
XM_006715416.2:c.25025T>G	XP_006715479.1:p.Ile8342Ser
XM_006715417.2:c.24968T>G	XP_006715480.1:p.Ile8323Ser
XM_006715420.2:c.24956T>G	XP_006715483.1:p.Ile8319Ser
XM_006715421.2:c.24953T>G	XP_006715484.1:p.Ile8318Ser
XM_006715423.2:c.25109T>G	XP_006715486.1:p.Ile8370Ser
XM_006715424.2:c.25109T>G	XP_006715487.1:p.Ile8370Ser
XM_006715425.2:c.25040T>G	XP_006715488.1:p.Ile8347Ser
XM_011535641.2:c.25106T>G	XP_011533943.1:p.Ile8369Ser
XM_011535642.2:c.25094T>G	XP_011533944.1:p.Ile8365Ser
XM_011535645.2:c.22877T>G	XP_011533947.1:p.Ile7626Ser
XM_017010608.1:c.25109T>G	XP_016866097.1:p.Ile8370Ser
XM_017010609.1:c.25109T>G	XP_016866098.1:p.Ile8370Ser
XM_017010610.1:c.25088T>G	XP_016866099.1:p.Ile8363Ser
XM_017010611.2:c.25082T>G	XP_016866100.1:p.Ile8361Ser
XM_017010612.1:c.25031T>G	XP_016866101.1:p.Ile8344Ser
XM_017010613.1:c.25037T>G	XP_016866102.1:p.Ile8346Ser
XM_017010614.1:c.24953T>G	XP_016866103.1:p.Ile8318Ser
XM_017010615.1:c.24884T>G	XP_016866104.1:p.Ile8295Ser
XM_017010616.1:c.25040T>G	XP_016866105.1:p.Ile8347Ser
XM_017010617.1:c.25037T>G	XP_016866106.1:p.Ile8346Ser
XM_017010618.1:c.25025T>G	XP_016866107.1:p.Ile8342Ser
XM_017010619.1:c.23384T>G	XP_016866108.1:p.Ile7795Ser
NM_182961.4:c.25004T>G MANE Select	NP_892006.3:p.Ile8335Ser
NM_001347701.2:c.1610T>G	NP_001334630.1:p.Ile537Ser
NM_001347702.2:c.1538T>G MANE Plus Clinical	NP_001334631.1:p.Ile513Ser
NM_033071.5:c.24860T>G	NP_149062.2:p.Ile8287Ser