Canonical Allele Identifier: CA5362892

Gene: TPRN

Linked Data

• ClinVar Variation Id: 281645
• ClinVar RCV Id: RCV000300329
• dbSNP Id: rs548415902
• ExAC: 9:140094958 C / T
• gnomAD v2: 9-140094958-C-T
• gnomAD v3: 9-137200506-C-T
• gnomAD v4: 9-137200506-C-T
• MyVariant Identifiers: chr9:g.140094958C>T (hg19) ; chr9:g.137200506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137200506C>T , CM000671.2:g.137200506C>T	GRCh38
NC_000009.11:g.140094958C>T , CM000671.1:g.140094958C>T	GRCh37
NC_000009.10:g.139214779C>T	NCBI36
NG_027801.1:g.5206G>A
NG_027801.2:g.8688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409012.6:c.206G>A MANE Select	ENSP00000387100.4:p.Arg69Gln
ENST00000409012.4:c.206G>A	ENSP00000387100.4:p.Arg69Gln
ENST00000541945.1:n.90+3598G>A
NM_001128228.2:c.206G>A	NP_001121700.2:p.Arg69Gln
NM_001128228.3:c.206G>A MANE Select	NP_001121700.2:p.Arg69Gln