Canonical Allele Identifier: CA90852858

Gene: PCYT1A SLC51A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196241987C>T , CM000665.2:g.196241987C>T	GRCh38
NC_000003.11:g.195968858C>T , CM000665.1:g.195968858C>T	GRCh37
NC_000003.10:g.197453255C>T	NCBI36
NG_042817.1:g.50766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.669G>A (PCYT1A) MANE Select	ENSP00000394617.1:p.Arg223=
ENST00000292823.6:c.669G>A (PCYT1A)	ENSP00000292823.2:p.Arg223=
ENST00000411591.5:c.669G>A (PCYT1A)	ENSP00000400430.1:p.Arg223=
ENST00000415111.1:c.58-507C>T (SLC51A)	ENSP00000409560.1:n.58-507C>T
ENST00000419333.5:c.669G>A (PCYT1A)	ENSP00000390968.1:p.Arg223=
ENST00000430755.5:c.471G>A (PCYT1A)	ENSP00000402283.1:p.Arg157=
ENST00000431016.5:c.669G>A (PCYT1A)	ENSP00000394617.1:p.Arg223=
ENST00000433733.5:c.288G>A (PCYT1A)	ENSP00000390458.1:p.Arg96=
ENST00000441879.5:c.486+5380G>A (PCYT1A)	ENSP00000392397.1:n.486+5380G>A
NM_001312673.1:c.669G>A (PCYT1A)	NP_001299602.1:p.Arg223=
NM_005017.2:c.669G>A (PCYT1A)	NP_005008.2:p.Arg223=
NM_005017.3:c.669G>A (PCYT1A)	NP_005008.2:p.Arg223=
NM_001312673.2:c.669G>A (PCYT1A) MANE Select	NP_001299602.1:p.Arg223=
NM_005017.4:c.669G>A (PCYT1A)	NP_005008.2:p.Arg223=