Canonical Allele Identifier: CA467852913
Gene: TPRN HGNC NCBI

Linked Data

dbSNP Id: rs1270510770
gnomAD v2: 9-140093655-C-A
gnomAD v4: 9-137199203-C-A
MyVariant Identifiers: chr9:g.140093655C>A (hg19) chr9:g.137199203C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199203C>A , CM000671.2:g.137199203C>A GRCh38
NC_000009.11:g.140093655C>A , CM000671.1:g.140093655C>A GRCh37
NC_000009.10:g.139213476C>A NCBI36
NG_027801.1:g.6509G>T
NG_027801.2:g.9991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1509G>T MANE Select ENSP00000387100.4:p.Val503=
ENST00000333046.8:c.903G>T ENSP00000327617.4:p.Val301=
ENST00000409012.4:c.1509G>T ENSP00000387100.4:p.Val503=
ENST00000541945.1:n.90+4901G>T
NM_001128228.2:c.1509G>T NP_001121700.2:p.Val503=
NM_001128228.3:c.1509G>T MANE Select NP_001121700.2:p.Val503=
Search 100 bp 5'
Search 100 bp 3'