Canonical Allele Identifier: CA1431561399

Gene: PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196248245G= , CM000665.2:g.196248245G=	GRCh38
NC_000003.11:g.195975116G= , CM000665.1:g.195975116G=	GRCh37
NC_000003.10:g.197459513G=	NCBI36
NG_042817.1:g.44508C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.296C= MANE Select	ENSP00000394617.1:p.Ala99=
ENST00000292823.6:c.296C=	ENSP00000292823.2:p.Ala99=
ENST00000411591.5:c.296C=	ENSP00000400430.1:p.Ala99=
ENST00000412869.5:c.296C=	ENSP00000402015.1:p.Ala99=
ENST00000419333.5:c.296C=	ENSP00000390968.1:p.Ala99=
ENST00000430755.5:c.98C=	ENSP00000402283.1:p.Ala33=
ENST00000431016.5:c.296C=	ENSP00000394617.1:p.Ala99=
ENST00000431391.1:c.*302C=	ENSP00000405181.1:n.*302C=
ENST00000438634.5:c.*109C=	ENSP00000391405.1:n.*109C=
ENST00000441879.5:c.296C=	ENSP00000392397.1:p.Ala99=
ENST00000443555.1:c.296C=	ENSP00000393341.1:p.Ala99=
ENST00000444822.5:c.296C=	ENSP00000397888.1:p.Ala99=
ENST00000460677.5:n.444C=
ENST00000473978.5:n.449C=
ENST00000488235.1:n.29C=
ENST00000491544.1:n.355C=
NM_001312673.1:c.296C=	NP_001299602.1:p.Ala99=
NM_005017.2:c.296C=	NP_005008.2:p.Ala99=
NM_005017.3:c.296C=	NP_005008.2:p.Ala99=
NM_001312673.2:c.296C= MANE Select	NP_001299602.1:p.Ala99=
NM_005017.4:c.296C=	NP_005008.2:p.Ala99=