Canonical Allele Identifier: CA355612503

Gene: PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196247384A>G , CM000665.2:g.196247384A>G	GRCh38
NC_000003.11:g.195974255A>G , CM000665.1:g.195974255A>G	GRCh37
NC_000003.10:g.197458652A>G	NCBI36
NG_042817.1:g.45369T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001312673.2:c.469T>C MANE Select	NP_001299602.1:p.Phe157Leu
ENST00000431016.6:c.469T>C MANE Select	ENSP00000394617.1:p.Phe157Leu
NM_001312673.1:c.469T>C	NP_001299602.1:p.Phe157Leu
NM_005017.2:c.469T>C	NP_005008.2:p.Phe157Leu
NM_005017.3:c.469T>C	NP_005008.2:p.Phe157Leu
NM_005017.4:c.469T>C	NP_005008.2:p.Phe157Leu
ENST00000292823.6:c.469T>C	ENSP00000292823.2:p.Phe157Leu
ENST00000411591.5:c.469T>C	ENSP00000400430.1:p.Phe157Leu
ENST00000419333.5:c.469T>C	ENSP00000390968.1:p.Phe157Leu
ENST00000430755.5:c.271T>C	ENSP00000402283.1:p.Phe91Leu
ENST00000431016.5:c.469T>C	ENSP00000394617.1:p.Phe157Leu
ENST00000433733.5:c.88T>C	ENSP00000390458.1:p.Phe30Leu
ENST00000441879.5:c.469T>C	ENSP00000392397.1:p.Phe157Leu
ENST00000444822.5:c.*189T>C	ENSP00000397888.1:n.*189T>C
ENST00000460677.5:n.1305T>C
ENST00000473978.5:n.1310T>C
ENST00000488235.1:n.202T>C