Canonical Allele Identifier: CA2250551057

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17522317C= , CM000679.2:g.17522317C=	GRCh38
NC_000017.10:g.17425631C= , CM000679.1:g.17425631C=	GRCh37
NC_000017.9:g.17366356C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_148172.3:c.283G= MANE Select	NP_680477.1:p.Val95=
ENST00000255389.10:c.283G= MANE Select	ENSP00000255389.5:p.Val95=
NM_001267551.1:c.217G=	NP_001254480.1:p.Val73=
NM_001267551.2:c.217G=	NP_001254480.1:p.Val73=
NM_001267552.1:c.283G=	NP_001254481.1:p.Val95=
NM_001267552.2:c.283G=	NP_001254481.1:p.Val95=
NM_007169.2:c.172G=	NP_009100.2:p.Val58=
NM_007169.3:c.172G=	NP_009100.2:p.Val58=
NM_148172.2:c.283G=	NP_680477.1:p.Val95=
NM_148173.1:c.172G=	NP_680478.1:p.Val58=
NM_148173.2:c.172G=	NP_680478.1:p.Val58=
ENST00000255389.9:c.283G=	ENSP00000255389.5:p.Val95=
ENST00000395781.6:c.283G=	ENSP00000379127.2:p.Val95=
ENST00000395782.5:c.172G=	ENSP00000379128.1:p.Val58=
ENST00000395783.5:c.172G=	ENSP00000379129.1:p.Val58=
ENST00000421096.5:n.307G=
ENST00000435340.6:c.217G=	ENSP00000391288.2:p.Val73=
ENST00000461404.1:c.*45G=	ENSP00000463713.1:n.*45G=
ENST00000472446.1:n.216-9663G=
ENST00000580147.5:c.205-12772G=	ENSP00000463112.1:n.205-12772G=
XM_006721418.2:c.220G=	XP_006721481.2:p.Val74=
XM_006721418.4:c.220G=	XP_006721481.2:p.Val74=
XM_024450532.1:c.172G=	XP_024306300.1:p.Val58=