Canonical Allele Identifier: CA2779361

Gene: PCYT1A SLC51A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196238806dup , CM000665.2:g.196238806dup	GRCh38
NC_000003.11:g.195965677dup , CM000665.1:g.195965677dup	GRCh37
NC_000003.10:g.197450074dup	NCBI36
NG_042817.1:g.53951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.990dup (PCYT1A) MANE Select	ENSP00000394617.1:p.Ser331LeufsTer30
ENST00000292823.6:c.990dup (PCYT1A)	ENSP00000292823.2:p.Ser331LeufsTer30
ENST00000415111.1:c.58-3688dup (SLC51A)	ENSP00000409560.1:n.58-3688dup
ENST00000419333.5:c.990dup (PCYT1A)	ENSP00000390968.1:p.Ser331LeufsTer30
ENST00000431016.5:c.990dup (PCYT1A)	ENSP00000394617.1:p.Ser331LeufsTer30
ENST00000441879.5:c.486+8565dup (PCYT1A)	ENSP00000392397.1:n.486+8565dup
ENST00000460827.1:n.551dup (PCYT1A)
ENST00000496737.1:n.418-1815dup (SLC51A)
NM_001312673.1:c.990dup (PCYT1A)	NP_001299602.1:p.Ser331LeufsTer30
NM_005017.2:c.990dup (PCYT1A)	NP_005008.2:p.Ser331LeufsTer30
NM_005017.3:c.990dup (PCYT1A)	NP_005008.2:p.Ser331LeufsTer30
NM_001312673.2:c.990dup (PCYT1A) MANE Select	NP_001299602.1:p.Ser331LeufsTer30
NM_005017.4:c.990dup (PCYT1A)	NP_005008.2:p.Ser331LeufsTer30