Canonical Allele Identifier: CA904839416

Gene: PCYT1A

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196246373G>T , CM000665.2:g.196246373G>T	GRCh38
NC_000003.11:g.195973244G>T , CM000665.1:g.195973244G>T	GRCh37
NC_000003.10:g.197457641G>T	NCBI36
NG_042817.1:g.46380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.486+994C>A MANE Select	ENSP00000394617.1:n.486+994C>A
ENST00000292823.6:c.486+994C>A	ENSP00000292823.2:n.486+994C>A
ENST00000411591.5:c.486+994C>A	ENSP00000400430.1:n.486+994C>A
ENST00000419333.5:c.486+994C>A	ENSP00000390968.1:n.486+994C>A
ENST00000430755.5:c.288+994C>A	ENSP00000402283.1:n.288+994C>A
ENST00000431016.5:c.486+994C>A	ENSP00000394617.1:n.486+994C>A
ENST00000433733.5:c.105+994C>A	ENSP00000390458.1:n.105+994C>A
ENST00000441879.5:c.486+994C>A	ENSP00000392397.1:n.486+994C>A
ENST00000444822.5:c.*206+994C>A	ENSP00000397888.1:n.*206+994C>A
ENST00000460677.5:n.1322+994C>A
ENST00000473978.5:n.1327+994C>A
ENST00000488235.1:n.219+994C>A
NM_001312673.1:c.486+994C>A	NP_001299602.1:n.486+994C>A
NM_005017.2:c.486+994C>A	NP_005008.2:n.486+994C>A
NM_005017.3:c.486+994C>A	NP_005008.2:n.486+994C>A
NM_001312673.2:c.486+994C>A MANE Select	NP_001299602.1:n.486+994C>A
NM_005017.4:c.486+994C>A	NP_005008.2:n.486+994C>A