Canonical Allele Identifier: CA9393838

Gene: SYNE4

Linked Data

• dbSNP Id: rs375616150
• ExAC: 19:36497351 G / T
• gnomAD v2: 19-36497351-G-T
• gnomAD v3: 19-36006449-G-T
• gnomAD v4: 19-36006449-G-T
• MyVariant Identifiers: chr19:g.36497351G>T (hg19) ; chr19:g.36006449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006449G>T , CM000681.2:g.36006449G>T	GRCh38
NC_000019.9:g.36497351G>T , CM000681.1:g.36497351G>T	GRCh37
NC_000019.8:g.41189191G>T	NCBI36
NG_042831.1:g.7345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.841C>A MANE Select	ENSP00000316130.3:p.Pro281Thr
ENST00000397428.8:c.67-1012C>A
ENST00000465425.2:n.953C>A
ENST00000324444.7:c.841C>A	ENSP00000316130.3:p.Pro281Thr
ENST00000340477.9:c.502C>A	ENSP00000343152.5:p.Pro168Thr
ENST00000397428.7:c.40-1012C>A	ENSP00000380572.3:n.40-1012C>A
ENST00000465425.1:n.953C>A
ENST00000490730.1:c.688+153C>A	ENSP00000422716.1:n.688+153C>A
ENST00000503121.5:c.242+1768C>A
ENST00000505054.2:n.395-1012C>A
NM_001039876.1:c.841C>A	NP_001034965.1:p.Pro281Thr
NM_001039876.2:c.841C>A	NP_001034965.1:p.Pro281Thr
NM_001297735.1:c.502C>A	NP_001284664.1:p.Pro168Thr
NM_001297735.2:c.502C>A	NP_001284664.1:p.Pro168Thr
XM_005258598.2:c.688+153C>A	XP_005258655.1:n.688+153C>A
XM_005258601.2:c.618+301C>A	XP_005258658.1:n.618+301C>A
XM_005258604.3:c.688+153C>A	XP_005258661.1:n.688+153C>A
NM_001039876.3:c.841C>A MANE Select	NP_001034965.1:p.Pro281Thr
NM_001297735.3:c.502C>A	NP_001284664.1:p.Pro168Thr