Canonical Allele Identifier: CA2250570603

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506252A= , CM000679.2:g.17506252A=	GRCh38
NC_000017.10:g.17409566A= , CM000679.1:g.17409566A=	GRCh37
NC_000017.9:g.17350291A=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.628T= MANE Select	ENSP00000255389.5:p.Tyr210=
ENST00000255389.9:c.628T=	ENSP00000255389.5:p.Tyr210=
ENST00000395781.6:c.659T=	ENSP00000379127.2:p.Leu220=
ENST00000395782.5:c.517T=	ENSP00000379128.1:p.Tyr173=
ENST00000395783.5:c.517T=	ENSP00000379129.1:p.Tyr173=
ENST00000435340.6:c.596T=	ENSP00000391288.2:p.Leu199=
ENST00000477595.5:n.122T=
ENST00000484838.6:n.492T=
ENST00000490392.5:n.362T=
ENST00000580147.5:c.*126T=	ENSP00000463112.1:n.*126T=
ENST00000582268.5:n.72T=
NM_001267551.1:c.562T=	NP_001254480.1:p.Tyr188=
NM_001267552.1:c.659T=	NP_001254481.1:p.Leu220=
NM_007169.2:c.517T=	NP_009100.2:p.Tyr173=
NM_148172.2:c.628T=	NP_680477.1:p.Tyr210=
NM_148173.1:c.517T=	NP_680478.1:p.Tyr173=
XM_006721418.2:c.565T=	XP_006721481.2:p.Tyr189=
XM_006721418.4:c.565T=	XP_006721481.2:p.Tyr189=
XM_017024016.1:c.295T=	XP_016879505.1:p.Tyr99=
XM_024450532.1:c.517T=	XP_024306300.1:p.Tyr173=
NM_148172.3:c.628T= MANE Select	NP_680477.1:p.Tyr210=
NM_001267551.2:c.562T=	NP_001254480.1:p.Tyr188=
NM_001267552.2:c.659T=	NP_001254481.1:p.Leu220=
NM_007169.3:c.517T=	NP_009100.2:p.Tyr173=
NM_148173.2:c.517T=	NP_680478.1:p.Tyr173=