Canonical Allele Identifier: CA375768587
Gene: TPRN HGNC NCBI

Linked Data

gnomAD v4: 9-137192231-C-G
MyVariant Identifiers: chr9:g.140086683C>G (hg19) chr9:g.137192231C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137192231C>G , CM000671.2:g.137192231C>G GRCh38
NC_000009.11:g.140086683C>G , CM000671.1:g.140086683C>G GRCh37
NC_000009.10:g.139206504C>G NCBI36
NG_027801.1:g.13481G>C
NG_027801.2:g.16963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.2073+28G>C MANE Select ENSP00000387100.4:n.2073+28G>C
ENST00000333046.8:c.1495G>C ENSP00000327617.4:p.Gly499Arg
ENST00000409012.4:c.2073+28G>C ENSP00000387100.4:n.2073+28G>C
ENST00000477345.1:n.2794+28G>C
NM_001128228.2:c.2073+28G>C NP_001121700.2:n.2073+28G>C
NM_001128228.3:c.2073+28G>C MANE Select NP_001121700.2:n.2073+28G>C
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