Canonical Allele Identifier: CA16042493
Gene: PCYT1A HGNC NCBI
SLC51A HGNC NCBI

Linked Data

ClinVar Variation Id: 373771
ClinVar RCV Id: RCV000414367
dbSNP Id: rs1057518600
MyVariant Identifiers: chr3:g.195965707_195965708dupCT (hg19) chr3:g.195965706_195965707insCT (hg19) chr3:g.196238836_196238837dupCT (hg38) chr3:g.196238835_196238836insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196238838_196238839dup , CM000665.2:g.196238838_196238839dup GRCh38
NC_000003.11:g.195965709_195965710dup , CM000665.1:g.195965709_195965710dup GRCh37
NC_000003.10:g.197450106_197450107dup NCBI36
NG_042817.1:g.53916_53917dup

Transcript Alleles

HGVS Amino-acid change
ENST00000431016.6:c.955_956dup (PCYT1A) MANE Select ENSP00000394617.1:p.Ser319ArgfsTer?
ENST00000292823.6:c.955_956dup (PCYT1A) ENSP00000292823.2:p.Ser319ArgfsTer?
ENST00000415111.1:c.58-3656_58-3655dup (SLC51A) ENSP00000409560.1:n.58-3656_58-3655dup
ENST00000419333.5:c.955_956dup (PCYT1A) ENSP00000390968.1:p.Ser319ArgfsTer?
ENST00000431016.5:c.955_956dup (PCYT1A) ENSP00000394617.1:p.Ser319ArgfsTer?
ENST00000441879.5:c.486+8530_486+8531dup (PCYT1A) ENSP00000392397.1:n.486+8530_486+8531dup
ENST00000460827.1:n.516_517dup (PCYT1A)
ENST00000496737.1:n.418-1783_418-1782dup (SLC51A)
NM_001312673.1:c.955_956dup (PCYT1A) NP_001299602.1:p.Ser319ArgfsTer?
NM_005017.2:c.955_956dup (PCYT1A) NP_005008.2:p.Ser319ArgfsTer?
NM_005017.3:c.955_956dup (PCYT1A) NP_005008.2:p.Ser319ArgfsTer?
NM_001312673.2:c.955_956dup (PCYT1A) MANE Select NP_001299602.1:p.Ser319ArgfsTer?
NM_005017.4:c.955_956dup (PCYT1A) NP_005008.2:p.Ser319ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'