Canonical Allele Identifier: CA2250570595

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506248A= , CM000679.2:g.17506248A=	GRCh38
NC_000017.10:g.17409562A= , CM000679.1:g.17409562A=	GRCh37
NC_000017.9:g.17350287A=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.632T= MANE Select	ENSP00000255389.5:p.Ile211=
ENST00000255389.9:c.632T=	ENSP00000255389.5:p.Ile211=
ENST00000395781.6:c.663T=	ENSP00000379127.2:p.His221=
ENST00000395782.5:c.521T=	ENSP00000379128.1:p.Ile174=
ENST00000395783.5:c.521T=	ENSP00000379129.1:p.Ile174=
ENST00000435340.6:c.600T=	ENSP00000391288.2:p.His200=
ENST00000477595.5:n.126T=
ENST00000484838.6:n.496T=
ENST00000490392.5:n.366T=
ENST00000580147.5:c.*130T=	ENSP00000463112.1:n.*130T=
ENST00000582268.5:n.76T=
NM_001267551.1:c.566T=	NP_001254480.1:p.Ile189=
NM_001267552.1:c.663T=	NP_001254481.1:p.His221=
NM_007169.2:c.521T=	NP_009100.2:p.Ile174=
NM_148172.2:c.632T=	NP_680477.1:p.Ile211=
NM_148173.1:c.521T=	NP_680478.1:p.Ile174=
XM_006721418.2:c.569T=	XP_006721481.2:p.Ile190=
XM_006721418.4:c.569T=	XP_006721481.2:p.Ile190=
XM_017024016.1:c.299T=	XP_016879505.1:p.Ile100=
XM_024450532.1:c.521T=	XP_024306300.1:p.Ile174=
NM_148172.3:c.632T= MANE Select	NP_680477.1:p.Ile211=
NM_001267551.2:c.566T=	NP_001254480.1:p.Ile189=
NM_001267552.2:c.663T=	NP_001254481.1:p.His221=
NM_007169.3:c.521T=	NP_009100.2:p.Ile174=
NM_148173.2:c.521T=	NP_680478.1:p.Ile174=