Canonical Allele Identifier: CA5362527
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1199132
ClinVar RCV Id: RCV001563520
dbSNP Id: rs575709206
ExAC: 9:140086689 G / A
gnomAD v2: 9-140086689-G-A
gnomAD v3: 9-137192237-G-A
gnomAD v4: 9-137192237-G-A
MyVariant Identifiers: chr9:g.140086689G>A (hg19) chr9:g.137192237G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137192237G>A , CM000671.2:g.137192237G>A GRCh38
NC_000009.11:g.140086689G>A , CM000671.1:g.140086689G>A GRCh37
NC_000009.10:g.139206510G>A NCBI36
NG_027801.1:g.13475C>T
NG_027801.2:g.16957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.2073+22C>T MANE Select ENSP00000387100.4:n.2073+22C>T
ENST00000333046.8:c.1489C>T ENSP00000327617.4:p.Arg497Cys
ENST00000409012.4:c.2073+22C>T ENSP00000387100.4:n.2073+22C>T
ENST00000477345.1:n.2794+22C>T
NM_001128228.2:c.2073+22C>T NP_001121700.2:n.2073+22C>T
NM_001128228.3:c.2073+22C>T MANE Select NP_001121700.2:n.2073+22C>T
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