Canonical Allele Identifier: CA405432834

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497545T>A (hg19) ; chr19:g.36006643T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006643T>A , CM000681.2:g.36006643T>A	GRCh38
NC_000019.9:g.36497545T>A , CM000681.1:g.36497545T>A	GRCh37
NC_000019.8:g.41189385T>A	NCBI36
NG_042831.1:g.7151A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.647A>T MANE Select	ENSP00000316130.3:p.Gln216Leu
ENST00000397428.8:c.67-1206A>T
ENST00000465425.2:n.759A>T
ENST00000324444.7:c.647A>T	ENSP00000316130.3:p.Gln216Leu
ENST00000340477.9:c.308A>T	ENSP00000343152.5:p.Gln103Leu
ENST00000397428.7:c.40-1206A>T	ENSP00000380572.3:n.40-1206A>T
ENST00000465425.1:n.759A>T
ENST00000490730.1:c.647A>T	ENSP00000422716.1:p.Gln216Leu
ENST00000503121.5:c.242+1574A>T
ENST00000505054.2:n.395-1206A>T
NM_001039876.1:c.647A>T	NP_001034965.1:p.Gln216Leu
NM_001039876.2:c.647A>T	NP_001034965.1:p.Gln216Leu
NM_001297735.1:c.308A>T	NP_001284664.1:p.Gln103Leu
NM_001297735.2:c.308A>T	NP_001284664.1:p.Gln103Leu
XM_005258598.2:c.647A>T	XP_005258655.1:p.Gln216Leu
XM_005258601.2:c.618+107A>T	XP_005258658.1:n.618+107A>T
XM_005258604.3:c.647A>T	XP_005258661.1:p.Gln216Leu
NM_001039876.3:c.647A>T MANE Select	NP_001034965.1:p.Gln216Leu
NM_001297735.3:c.308A>T	NP_001284664.1:p.Gln103Leu