Canonical Allele Identifier: CA375777051
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2507270
ClinVar RCV Id: RCV003239161
dbSNP Id: rs146437238
gnomAD v2: 9-140093905-G-C
gnomAD v4: 9-137199453-G-C
MyVariant Identifiers: chr9:g.140093905G>C (hg19) chr9:g.137199453G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199453G>C , CM000671.2:g.137199453G>C GRCh38
NC_000009.11:g.140093905G>C , CM000671.1:g.140093905G>C GRCh37
NC_000009.10:g.139213726G>C NCBI36
NG_027801.1:g.6259C>G
NG_027801.2:g.9741C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1259C>G MANE Select ENSP00000387100.4:p.Pro420Arg
ENST00000333046.8:c.653C>G ENSP00000327617.4:p.Pro218Arg
ENST00000409012.4:c.1259C>G ENSP00000387100.4:p.Pro420Arg
ENST00000541945.1:n.90+4651C>G
NM_001128228.2:c.1259C>G NP_001121700.2:p.Pro420Arg
NM_001128228.3:c.1259C>G MANE Select NP_001121700.2:p.Pro420Arg
Search 100 bp 5'
Search 100 bp 3'