Canonical Allele Identifier: CA375775951
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 805678
ClinVar RCV Id: RCV000993342
dbSNP Id: rs1588775926
MyVariant Identifiers: chr9:g.140093740A>G (hg19) chr9:g.137199288A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199288A>G , CM000671.2:g.137199288A>G GRCh38
NC_000009.11:g.140093740A>G , CM000671.1:g.140093740A>G GRCh37
NC_000009.10:g.139213561A>G NCBI36
NG_027801.1:g.6424T>C
NG_027801.2:g.9906T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1424T>C MANE Select ENSP00000387100.4:p.Leu475Pro
ENST00000333046.8:c.818T>C ENSP00000327617.4:p.Leu273Pro
ENST00000409012.4:c.1424T>C ENSP00000387100.4:p.Leu475Pro
ENST00000541945.1:n.90+4816T>C
NM_001128228.2:c.1424T>C NP_001121700.2:p.Leu475Pro
NM_001128228.3:c.1424T>C MANE Select NP_001121700.2:p.Leu475Pro
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