Canonical Allele Identifier: CA1431561099

Gene: PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196247479G= , CM000665.2:g.196247479G=	GRCh38
NC_000003.11:g.195974350G= , CM000665.1:g.195974350G=	GRCh37
NC_000003.10:g.197458747G=	NCBI36
NG_042817.1:g.45274C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001312673.2:c.374C= MANE Select	NP_001299602.1:p.Thr125=
ENST00000431016.6:c.374C= MANE Select	ENSP00000394617.1:p.Thr125=
NM_001312673.1:c.374C=	NP_001299602.1:p.Thr125=
NM_005017.2:c.374C=	NP_005008.2:p.Thr125=
NM_005017.3:c.374C=	NP_005008.2:p.Thr125=
NM_005017.4:c.374C=	NP_005008.2:p.Thr125=
ENST00000292823.6:c.374C=	ENSP00000292823.2:p.Thr125=
ENST00000411591.5:c.374C=	ENSP00000400430.1:p.Thr125=
ENST00000412869.5:c.374C=	ENSP00000402015.1:p.Thr125=
ENST00000419333.5:c.374C=	ENSP00000390968.1:p.Thr125=
ENST00000430755.5:c.176C=	ENSP00000402283.1:p.Thr59=
ENST00000431016.5:c.374C=	ENSP00000394617.1:p.Thr125=
ENST00000438634.5:c.*187C=	ENSP00000391405.1:n.*187C=
ENST00000441879.5:c.374C=	ENSP00000392397.1:p.Thr125=
ENST00000444822.5:c.*94C=	ENSP00000397888.1:n.*94C=
ENST00000460677.5:n.1210C=
ENST00000473978.5:n.1215C=
ENST00000488235.1:n.107C=
ENST00000491544.1:n.577C=