Canonical Allele Identifier: CA405432312

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497445C>G (hg19) ; chr19:g.36006543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006543C>G , CM000681.2:g.36006543C>G	GRCh38
NC_000019.9:g.36497445C>G , CM000681.1:g.36497445C>G	GRCh37
NC_000019.8:g.41189285C>G	NCBI36
NG_042831.1:g.7251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.747G>C MANE Select	ENSP00000316130.3:p.Trp249Cys
ENST00000397428.8:c.67-1106G>C
ENST00000465425.2:n.859G>C
ENST00000324444.7:c.747G>C	ENSP00000316130.3:p.Trp249Cys
ENST00000340477.9:c.408G>C	ENSP00000343152.5:p.Trp136Cys
ENST00000397428.7:c.40-1106G>C	ENSP00000380572.3:n.40-1106G>C
ENST00000465425.1:n.859G>C
ENST00000490730.1:c.688+59G>C	ENSP00000422716.1:n.688+59G>C
ENST00000503121.5:c.242+1674G>C
ENST00000505054.2:n.395-1106G>C
NM_001039876.1:c.747G>C	NP_001034965.1:p.Trp249Cys
NM_001039876.2:c.747G>C	NP_001034965.1:p.Trp249Cys
NM_001297735.1:c.408G>C	NP_001284664.1:p.Trp136Cys
NM_001297735.2:c.408G>C	NP_001284664.1:p.Trp136Cys
XM_005258598.2:c.688+59G>C	XP_005258655.1:n.688+59G>C
XM_005258601.2:c.618+207G>C	XP_005258658.1:n.618+207G>C
XM_005258604.3:c.688+59G>C	XP_005258661.1:n.688+59G>C
NM_001039876.3:c.747G>C MANE Select	NP_001034965.1:p.Trp249Cys
NM_001297735.3:c.408G>C	NP_001284664.1:p.Trp136Cys