Canonical Allele Identifier: CA201721021
Gene: TPRN HGNC NCBI

Linked Data

dbSNP Id: rs200674589
gnomAD v4: 9-137199289-G-C
MyVariant Identifiers: chr9:g.140093741G>C (hg19) chr9:g.137199289G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199289G>C , CM000671.2:g.137199289G>C GRCh38
NC_000009.11:g.140093741G>C , CM000671.1:g.140093741G>C GRCh37
NC_000009.10:g.139213562G>C NCBI36
NG_027801.1:g.6423C>G
NG_027801.2:g.9905C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1423C>G MANE Select ENSP00000387100.4:p.Leu475Val
ENST00000333046.8:c.817C>G ENSP00000327617.4:p.Leu273Val
ENST00000409012.4:c.1423C>G ENSP00000387100.4:p.Leu475Val
ENST00000541945.1:n.90+4815C>G
NM_001128228.2:c.1423C>G NP_001121700.2:p.Leu475Val
NM_001128228.3:c.1423C>G MANE Select NP_001121700.2:p.Leu475Val
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