Canonical Allele Identifier: CA355612497

Gene: PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196247382G>C , CM000665.2:g.196247382G>C	GRCh38
NC_000003.11:g.195974253G>C , CM000665.1:g.195974253G>C	GRCh37
NC_000003.10:g.197458650G>C	NCBI36
NG_042817.1:g.45371C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001312673.2:c.471C>G MANE Select	NP_001299602.1:p.Phe157Leu
ENST00000431016.6:c.471C>G MANE Select	ENSP00000394617.1:p.Phe157Leu
NM_001312673.1:c.471C>G	NP_001299602.1:p.Phe157Leu
NM_005017.2:c.471C>G	NP_005008.2:p.Phe157Leu
NM_005017.3:c.471C>G	NP_005008.2:p.Phe157Leu
NM_005017.4:c.471C>G	NP_005008.2:p.Phe157Leu
ENST00000292823.6:c.471C>G	ENSP00000292823.2:p.Phe157Leu
ENST00000411591.5:c.471C>G	ENSP00000400430.1:p.Phe157Leu
ENST00000419333.5:c.471C>G	ENSP00000390968.1:p.Phe157Leu
ENST00000430755.5:c.273C>G	ENSP00000402283.1:p.Phe91Leu
ENST00000431016.5:c.471C>G	ENSP00000394617.1:p.Phe157Leu
ENST00000433733.5:c.90C>G	ENSP00000390458.1:p.Phe30Leu
ENST00000441879.5:c.471C>G	ENSP00000392397.1:p.Phe157Leu
ENST00000444822.5:c.*191C>G	ENSP00000397888.1:n.*191C>G
ENST00000460677.5:n.1307C>G
ENST00000473978.5:n.1312C>G
ENST00000488235.1:n.204C>G