Canonical Allele Identifier: CA1431561070

Gene: PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196247405G= , CM000665.2:g.196247405G=	GRCh38
NC_000003.11:g.195974276G= , CM000665.1:g.195974276G=	GRCh37
NC_000003.10:g.197458673G=	NCBI36
NG_042817.1:g.45348C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.448C= MANE Select	ENSP00000394617.1:p.Pro150=
ENST00000292823.6:c.448C=	ENSP00000292823.2:p.Pro150=
ENST00000411591.5:c.448C=	ENSP00000400430.1:p.Pro150=
ENST00000419333.5:c.448C=	ENSP00000390968.1:p.Pro150=
ENST00000430755.5:c.250C=	ENSP00000402283.1:p.Pro84=
ENST00000431016.5:c.448C=	ENSP00000394617.1:p.Pro150=
ENST00000433733.5:c.67C=	ENSP00000390458.1:p.Pro23=
ENST00000441879.5:c.448C=	ENSP00000392397.1:p.Pro150=
ENST00000444822.5:c.*168C=	ENSP00000397888.1:n.*168C=
ENST00000460677.5:n.1284C=
ENST00000473978.5:n.1289C=
ENST00000488235.1:n.181C=
NM_001312673.1:c.448C=	NP_001299602.1:p.Pro150=
NM_005017.2:c.448C=	NP_005008.2:p.Pro150=
NM_005017.3:c.448C=	NP_005008.2:p.Pro150=
NM_001312673.2:c.448C= MANE Select	NP_001299602.1:p.Pro150=
NM_005017.4:c.448C=	NP_005008.2:p.Pro150=