Canonical Allele Identifier: CA5362730
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2352006
ClinVar RCV Id: RCV002973661
dbSNP Id: rs376794683
ExAC: 9:140093702 C / T
gnomAD v2: 9-140093702-C-T
gnomAD v3: 9-137199250-C-T
gnomAD v4: 9-137199250-C-T
COSMIC: COSM3905998 COSM3905999
MyVariant Identifiers: chr9:g.140093702C>T (hg19) chr9:g.137199250C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199250C>T , CM000671.2:g.137199250C>T GRCh38
NC_000009.11:g.140093702C>T , CM000671.1:g.140093702C>T GRCh37
NC_000009.10:g.139213523C>T NCBI36
NG_027801.1:g.6462G>A
NG_027801.2:g.9944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1462G>A MANE Select ENSP00000387100.4:p.Gly488Arg
ENST00000333046.8:c.856G>A ENSP00000327617.4:p.Gly286Arg
ENST00000409012.4:c.1462G>A ENSP00000387100.4:p.Gly488Arg
ENST00000541945.1:n.90+4854G>A
NM_001128228.2:c.1462G>A NP_001121700.2:p.Gly488Arg
NM_001128228.3:c.1462G>A MANE Select NP_001121700.2:p.Gly488Arg
Search 100 bp 5'
Search 100 bp 3'