Canonical Allele Identifier: CA366080814

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461254C>A (hg19) ; chr6:g.152140119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140119C>A , CM000668.2:g.152140119C>A	GRCh38
NC_000006.11:g.152461254C>A , CM000668.1:g.152461254C>A	GRCh37
NC_000006.10:g.152502947C>A	NCBI36
NG_012855.1:g.502281G>T
NG_012855.2:g.502281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1823G>T MANE Plus Clinical	ENSP00000346701.4:p.Ser608Ile
ENST00000367255.10:c.25289G>T MANE Select	ENSP00000356224.5:p.Ser8430Ile
ENST00000423061.6:c.25145G>T	ENSP00000396024.1:p.Ser8382Ile
ENST00000672154.1:c.691G>T
ENST00000672169.1:c.1024G>T
ENST00000673173.1:c.933G>T
ENST00000673451.1:c.1061G>T	ENSP00000500189.1:p.Ser354Ile
ENST00000341594.9:c.24074G>T	ENSP00000341887.6:p.Ser8025Ile
ENST00000347037.9:n.2037G>T
ENST00000354674.4:c.1823G>T	ENSP00000346701.4:p.Ser608Ile
ENST00000367251.7:c.4124G>T	ENSP00000356220.3:p.Ser1375Ile
ENST00000367255.9:c.25289G>T	ENSP00000356224.5:p.Ser8430Ile
ENST00000367256.9:n.8981G>T
ENST00000367257.8:c.3227G>T	ENSP00000356226.4:p.Ser1076Ile
ENST00000409694.6:n.8873G>T
ENST00000423061.5:c.25145G>T	ENSP00000396024.1:p.Ser8382Ile
ENST00000460912.6:n.1903G>T
ENST00000478916.5:n.4311G>T
ENST00000536990.5:n.2126G>T
ENST00000539504.5:c.1754G>T	ENSP00000441052.1:p.Ser585Ile
NM_033071.3:c.25145G>T	NP_149062.1:p.Ser8382Ile
NM_182961.3:c.25289G>T	NP_892006.3:p.Ser8430Ile
XM_006715407.1:c.25394G>T	XP_006715470.1:p.Ser8465Ile
XM_006715408.1:c.25382G>T	XP_006715471.1:p.Ser8461Ile
XM_006715409.1:c.25373G>T	XP_006715472.1:p.Ser8458Ile
XM_006715410.1:c.25394G>T	XP_006715473.1:p.Ser8465Ile
XM_006715411.1:c.25343G>T	XP_006715474.1:p.Ser8448Ile
XM_006715412.1:c.25379G>T	XP_006715475.1:p.Ser8460Ile
XM_006715413.1:c.25325G>T	XP_006715476.1:p.Ser8442Ile
XM_006715414.1:c.25322G>T	XP_006715477.1:p.Ser8441Ile
XM_006715415.1:c.25325G>T	XP_006715478.1:p.Ser8442Ile
XM_006715416.1:c.25310G>T	XP_006715479.1:p.Ser8437Ile
XM_006715417.1:c.25253G>T	XP_006715480.1:p.Ser8418Ile
XM_006715420.1:c.25241G>T	XP_006715483.1:p.Ser8414Ile
XM_006715421.1:c.25238G>T	XP_006715484.1:p.Ser8413Ile
XM_006715422.1:c.25235G>T	XP_006715485.1:p.Ser8412Ile
XM_006715423.1:c.25394G>T	XP_006715486.1:p.Ser8465Ile
XM_006715424.1:c.25394G>T	XP_006715487.1:p.Ser8465Ile
XM_006715425.1:c.25325G>T	XP_006715488.1:p.Ser8442Ile
XM_011535641.1:c.25391G>T	XP_011533943.1:p.Ser8464Ile
XM_011535642.1:c.25379G>T	XP_011533944.1:p.Ser8460Ile
XM_011535643.1:c.25229G>T	XP_011533945.1:p.Ser8410Ile
XM_011535644.1:c.23669G>T	XP_011533946.1:p.Ser7890Ile
XM_011535645.1:c.23162G>T	XP_011533947.1:p.Ser7721Ile
XM_011535647.1:c.18629G>T	XP_011533949.1:p.Ser6210Ile
NM_001347701.1:c.1895G>T	NP_001334630.1:p.Ser632Ile
NM_001347702.1:c.1823G>T	NP_001334631.1:p.Ser608Ile
XM_006715408.2:c.25382G>T	XP_006715471.1:p.Ser8461Ile
XM_006715410.2:c.25394G>T	XP_006715473.1:p.Ser8465Ile
XM_006715412.2:c.25379G>T	XP_006715475.1:p.Ser8460Ile
XM_006715413.2:c.25325G>T	XP_006715476.1:p.Ser8442Ile
XM_006715415.2:c.25325G>T	XP_006715478.1:p.Ser8442Ile
XM_006715416.2:c.25310G>T	XP_006715479.1:p.Ser8437Ile
XM_006715417.2:c.25253G>T	XP_006715480.1:p.Ser8418Ile
XM_006715420.2:c.25241G>T	XP_006715483.1:p.Ser8414Ile
XM_006715421.2:c.25238G>T	XP_006715484.1:p.Ser8413Ile
XM_006715423.2:c.25394G>T	XP_006715486.1:p.Ser8465Ile
XM_006715424.2:c.25394G>T	XP_006715487.1:p.Ser8465Ile
XM_006715425.2:c.25325G>T	XP_006715488.1:p.Ser8442Ile
XM_011535641.2:c.25391G>T	XP_011533943.1:p.Ser8464Ile
XM_011535642.2:c.25379G>T	XP_011533944.1:p.Ser8460Ile
XM_011535645.2:c.23162G>T	XP_011533947.1:p.Ser7721Ile
XM_017010608.1:c.25394G>T	XP_016866097.1:p.Ser8465Ile
XM_017010609.1:c.25394G>T	XP_016866098.1:p.Ser8465Ile
XM_017010610.1:c.25373G>T	XP_016866099.1:p.Ser8458Ile
XM_017010611.2:c.25367G>T	XP_016866100.1:p.Ser8456Ile
XM_017010612.1:c.25316G>T	XP_016866101.1:p.Ser8439Ile
XM_017010613.1:c.25322G>T	XP_016866102.1:p.Ser8441Ile
XM_017010614.1:c.25238G>T	XP_016866103.1:p.Ser8413Ile
XM_017010615.1:c.25169G>T	XP_016866104.1:p.Ser8390Ile
XM_017010616.1:c.25325G>T	XP_016866105.1:p.Ser8442Ile
XM_017010617.1:c.25322G>T	XP_016866106.1:p.Ser8441Ile
XM_017010618.1:c.25310G>T	XP_016866107.1:p.Ser8437Ile
XM_017010619.1:c.23669G>T	XP_016866108.1:p.Ser7890Ile
NM_182961.4:c.25289G>T MANE Select	NP_892006.3:p.Ser8430Ile
NM_001347701.2:c.1895G>T	NP_001334630.1:p.Ser632Ile
NM_001347702.2:c.1823G>T MANE Plus Clinical	NP_001334631.1:p.Ser608Ile
NM_033071.5:c.25145G>T	NP_149062.2:p.Ser8382Ile