Canonical Allele Identifier: CA5362728
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 286302
ClinVar RCV Id: RCV002519223 RCV000263613
dbSNP Id: rs144139211
ExAC: 9:140093696 C / T
gnomAD v2: 9-140093696-C-T
gnomAD v3: 9-137199244-C-T
gnomAD v4: 9-137199244-C-T
MyVariant Identifiers: chr9:g.140093696C>T (hg19) chr9:g.137199244C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199244C>T , CM000671.2:g.137199244C>T GRCh38
NC_000009.11:g.140093696C>T , CM000671.1:g.140093696C>T GRCh37
NC_000009.10:g.139213517C>T NCBI36
NG_027801.1:g.6468G>A
NG_027801.2:g.9950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1468G>A MANE Select ENSP00000387100.4:p.Val490Met
ENST00000333046.8:c.862G>A ENSP00000327617.4:p.Val288Met
ENST00000409012.4:c.1468G>A ENSP00000387100.4:p.Val490Met
ENST00000541945.1:n.90+4860G>A
NM_001128228.2:c.1468G>A NP_001121700.2:p.Val490Met
NM_001128228.3:c.1468G>A MANE Select NP_001121700.2:p.Val490Met
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