Canonical Allele Identifier: CA507317343

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497540A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006638A>G , CM000681.2:g.36006638A>G	GRCh38
NC_000019.9:g.36497540A>G , CM000681.1:g.36497540A>G	GRCh37
NC_000019.8:g.41189380A>G	NCBI36
NG_042831.1:g.7156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.652T>C MANE Select	ENSP00000316130.3:p.Leu218=
ENST00000397428.8:c.67-1201T>C
ENST00000465425.2:n.764T>C
ENST00000324444.7:c.652T>C	ENSP00000316130.3:p.Leu218=
ENST00000340477.9:c.313T>C	ENSP00000343152.5:p.Leu105=
ENST00000397428.7:c.40-1201T>C	ENSP00000380572.3:n.40-1201T>C
ENST00000465425.1:n.764T>C
ENST00000490730.1:c.652T>C	ENSP00000422716.1:p.Leu218=
ENST00000503121.5:c.242+1579T>C
ENST00000505054.2:n.395-1201T>C
NM_001039876.1:c.652T>C	NP_001034965.1:p.Leu218=
NM_001039876.2:c.652T>C	NP_001034965.1:p.Leu218=
NM_001297735.1:c.313T>C	NP_001284664.1:p.Leu105=
NM_001297735.2:c.313T>C	NP_001284664.1:p.Leu105=
XM_005258598.2:c.652T>C	XP_005258655.1:p.Leu218=
XM_005258601.2:c.618+112T>C	XP_005258658.1:n.618+112T>C
XM_005258604.3:c.652T>C	XP_005258661.1:p.Leu218=
NM_001039876.3:c.652T>C MANE Select	NP_001034965.1:p.Leu218=
NM_001297735.3:c.313T>C	NP_001284664.1:p.Leu105=