Canonical Allele Identifier: CA154815

Gene: PTF1A

Linked Data

• ClinVar Variation Id: 130055
• ClinVar RCV Id: RCV000118082 ; RCV000333285 ; RCV001093986 ; RCV001522641 ; RCV001795174 ; RCV003226203
• dbSNP Id: rs7918487
• ExAC: 10:23482635 T / C
• gnomAD v2: 10-23482635-T-C
• gnomAD v3: 10-23193706-T-C
• gnomAD v4: 10-23193706-T-C
• MyVariant Identifiers: chr10:g.23482635T>C (hg19) ; chr10:g.23193706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.23193706T>C , CM000672.2:g.23193706T>C	GRCh38
NC_000010.10:g.23482635T>C , CM000672.1:g.23482635T>C	GRCh37
NC_000010.9:g.23522641T>C	NCBI36
NG_009798.1:g.6176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376504.4:c.787T>C MANE Select	ENSP00000365687.3:p.Ser263Pro
ENST00000638469.1:c.117T>C	ENSP00000491649.1:p.Gly39=
ENST00000639082.1:c.45-46T>C
ENST00000639873.1:c.95T>C	ENSP00000491542.1:p.Val32Ala
ENST00000640579.1:c.71-43T>C
ENST00000640697.1:c.64-46T>C
ENST00000376504.3:c.787T>C	ENSP00000365687.3:p.Ser263Pro
NM_178161.2:c.787T>C	NP_835455.1:p.Ser263Pro
NM_178161.3:c.787T>C MANE Select	NP_835455.1:p.Ser263Pro