Canonical Allele Identifier: CA2250570585

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506246C= , CM000679.2:g.17506246C=	GRCh38
NC_000017.10:g.17409560C= , CM000679.1:g.17409560C=	GRCh37
NC_000017.9:g.17350285C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_148172.3:c.634G= MANE Select	NP_680477.1:p.Val212=
ENST00000255389.10:c.634G= MANE Select	ENSP00000255389.5:p.Val212=
NM_001267551.1:c.568G=	NP_001254480.1:p.Val190=
NM_001267551.2:c.568G=	NP_001254480.1:p.Val190=
NM_001267552.1:c.665G=	NP_001254481.1:p.Ser222=
NM_001267552.2:c.665G=	NP_001254481.1:p.Ser222=
NM_007169.2:c.523G=	NP_009100.2:p.Val175=
NM_007169.3:c.523G=	NP_009100.2:p.Val175=
NM_148172.2:c.634G=	NP_680477.1:p.Val212=
NM_148173.1:c.523G=	NP_680478.1:p.Val175=
NM_148173.2:c.523G=	NP_680478.1:p.Val175=
ENST00000255389.9:c.634G=	ENSP00000255389.5:p.Val212=
ENST00000395781.6:c.665G=	ENSP00000379127.2:p.Ser222=
ENST00000395782.5:c.523G=	ENSP00000379128.1:p.Val175=
ENST00000395783.5:c.523G=	ENSP00000379129.1:p.Val175=
ENST00000435340.6:c.602G=	ENSP00000391288.2:p.Ser201=
ENST00000477595.5:n.128G=
ENST00000484838.6:n.498G=
ENST00000490392.5:n.368G=
ENST00000580147.5:c.*132G=	ENSP00000463112.1:n.*132G=
ENST00000582268.5:n.78G=
XM_006721418.2:c.571G=	XP_006721481.2:p.Val191=
XM_006721418.4:c.571G=	XP_006721481.2:p.Val191=
XM_017024016.1:c.301G=	XP_016879505.1:p.Val101=
XM_024450532.1:c.523G=	XP_024306300.1:p.Val175=