Canonical Allele Identifier: CA405431276

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497327C>G (hg19) ; chr19:g.36006425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006425C>G , CM000681.2:g.36006425C>G	GRCh38
NC_000019.9:g.36497327C>G , CM000681.1:g.36497327C>G	GRCh37
NC_000019.8:g.41189167C>G	NCBI36
NG_042831.1:g.7369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.865G>C MANE Select	ENSP00000316130.3:p.Glu289Gln
ENST00000397428.8:c.67-988G>C
ENST00000465425.2:n.977G>C
ENST00000324444.7:c.865G>C	ENSP00000316130.3:p.Glu289Gln
ENST00000340477.9:c.526G>C	ENSP00000343152.5:p.Glu176Gln
ENST00000397428.7:c.40-988G>C	ENSP00000380572.3:n.40-988G>C
ENST00000465425.1:n.977G>C
ENST00000490730.1:c.688+177G>C	ENSP00000422716.1:n.688+177G>C
ENST00000503121.5:c.242+1792G>C
ENST00000505054.2:n.395-988G>C
NM_001039876.1:c.865G>C	NP_001034965.1:p.Glu289Gln
NM_001039876.2:c.865G>C	NP_001034965.1:p.Glu289Gln
NM_001297735.1:c.526G>C	NP_001284664.1:p.Glu176Gln
NM_001297735.2:c.526G>C	NP_001284664.1:p.Glu176Gln
XM_005258598.2:c.688+177G>C	XP_005258655.1:n.688+177G>C
XM_005258601.2:c.618+325G>C	XP_005258658.1:n.618+325G>C
XM_005258604.3:c.688+177G>C	XP_005258661.1:n.688+177G>C
NM_001039876.3:c.865G>C MANE Select	NP_001034965.1:p.Glu289Gln
NM_001297735.3:c.526G>C	NP_001284664.1:p.Glu176Gln