Canonical Allele Identifier: CA249239
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 218511
ClinVar RCV Id: RCV000203034 RCV000879756
dbSNP Id: rs140967677
ExAC: 9:140093452 G / C
gnomAD v2: 9-140093452-G-C
gnomAD v3: 9-137199000-G-C
gnomAD v4: 9-137199000-G-C
MyVariant Identifiers: chr9:g.140093452G>C (hg19) chr9:g.137199000G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199000G>C , CM000671.2:g.137199000G>C GRCh38
NC_000009.11:g.140093452G>C , CM000671.1:g.140093452G>C GRCh37
NC_000009.10:g.139213273G>C NCBI36
NG_027801.1:g.6712C>G
NG_027801.2:g.10194C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409012.6:c.1712C>G MANE Select ENSP00000387100.4:p.Ser571Cys
ENST00000333046.8:c.1106C>G ENSP00000327617.4:p.Ser369Cys
ENST00000409012.4:c.1712C>G ENSP00000387100.4:p.Ser571Cys
ENST00000541945.1:n.90+5104C>G
NM_001128228.2:c.1712C>G NP_001121700.2:p.Ser571Cys
NM_001128228.3:c.1712C>G MANE Select NP_001121700.2:p.Ser571Cys
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