Canonical Allele Identifier: CA355611640

Gene: PCYT1A SLC51A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196242083A>C , CM000665.2:g.196242083A>C	GRCh38
NC_000003.11:g.195968954A>C , CM000665.1:g.195968954A>C	GRCh37
NC_000003.10:g.197453351A>C	NCBI36
NG_042817.1:g.50670T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001312673.2:c.573T>G (PCYT1A) MANE Select	NP_001299602.1:p.Phe191Leu
ENST00000431016.6:c.573T>G (PCYT1A) MANE Select	ENSP00000394617.1:p.Phe191Leu
NM_001312673.1:c.573T>G (PCYT1A)	NP_001299602.1:p.Phe191Leu
NM_005017.2:c.573T>G (PCYT1A)	NP_005008.2:p.Phe191Leu
NM_005017.3:c.573T>G (PCYT1A)	NP_005008.2:p.Phe191Leu
NM_005017.4:c.573T>G (PCYT1A)	NP_005008.2:p.Phe191Leu
ENST00000292823.6:c.573T>G (PCYT1A)	ENSP00000292823.2:p.Phe191Leu
ENST00000411591.5:c.573T>G (PCYT1A)	ENSP00000400430.1:p.Phe191Leu
ENST00000415111.1:c.58-411A>C (SLC51A)	ENSP00000409560.1:n.58-411A>C
ENST00000419333.5:c.573T>G (PCYT1A)	ENSP00000390968.1:p.Phe191Leu
ENST00000430755.5:c.375T>G (PCYT1A)	ENSP00000402283.1:p.Phe125Leu
ENST00000431016.5:c.573T>G (PCYT1A)	ENSP00000394617.1:p.Phe191Leu
ENST00000433733.5:c.192T>G (PCYT1A)	ENSP00000390458.1:p.Phe64Leu
ENST00000441879.5:c.486+5284T>G (PCYT1A)	ENSP00000392397.1:n.486+5284T>G
ENST00000473978.5:n.1414T>G (PCYT1A)