Canonical Allele Identifier: CA355612817

Gene: PCYT1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196247468C>G , CM000665.2:g.196247468C>G	GRCh38
NC_000003.11:g.195974339C>G , CM000665.1:g.195974339C>G	GRCh37
NC_000003.10:g.197458736C>G	NCBI36
NG_042817.1:g.45285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.385G>C MANE Select	ENSP00000394617.1:p.Glu129Gln
ENST00000292823.6:c.385G>C	ENSP00000292823.2:p.Glu129Gln
ENST00000411591.5:c.385G>C	ENSP00000400430.1:p.Glu129Gln
ENST00000412869.5:c.385G>C	ENSP00000402015.1:p.Glu129Gln
ENST00000419333.5:c.385G>C	ENSP00000390968.1:p.Glu129Gln
ENST00000430755.5:c.187G>C	ENSP00000402283.1:p.Glu63Gln
ENST00000431016.5:c.385G>C	ENSP00000394617.1:p.Glu129Gln
ENST00000433733.5:c.4G>C	ENSP00000390458.1:p.Glu2Gln
ENST00000438634.5:c.*198G>C	ENSP00000391405.1:n.*198G>C
ENST00000441879.5:c.385G>C	ENSP00000392397.1:p.Glu129Gln
ENST00000444822.5:c.*105G>C	ENSP00000397888.1:n.*105G>C
ENST00000460677.5:n.1221G>C
ENST00000473978.5:n.1226G>C
ENST00000488235.1:n.118G>C
ENST00000491544.1:n.588G>C
NM_001312673.1:c.385G>C	NP_001299602.1:p.Glu129Gln
NM_005017.2:c.385G>C	NP_005008.2:p.Glu129Gln
NM_005017.3:c.385G>C	NP_005008.2:p.Glu129Gln
NM_001312673.2:c.385G>C MANE Select	NP_001299602.1:p.Glu129Gln
NM_005017.4:c.385G>C	NP_005008.2:p.Glu129Gln