Canonical Allele Identifier: CA5362542
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2034941
ClinVar RCV Id: RCV002877260
dbSNP Id: rs778804291
ExAC: 9:140086730 G / A
gnomAD v2: 9-140086730-G-A
gnomAD v4: 9-137192278-G-A
MyVariant Identifiers: chr9:g.140086730G>A (hg19) chr9:g.137192278G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137192278G>A , CM000671.2:g.137192278G>A GRCh38
NC_000009.11:g.140086730G>A , CM000671.1:g.140086730G>A GRCh37
NC_000009.10:g.139206551G>A NCBI36
NG_027801.1:g.13434C>T
NG_027801.2:g.16916C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409012.6:c.2054C>T MANE Select ENSP00000387100.4:p.Pro685Leu
ENST00000333046.8:c.1448C>T ENSP00000327617.4:p.Pro483Leu
ENST00000409012.4:c.2054C>T ENSP00000387100.4:p.Pro685Leu
ENST00000477345.1:n.2775C>T
NM_001128228.2:c.2054C>T NP_001121700.2:p.Pro685Leu
NM_001128228.3:c.2054C>T MANE Select NP_001121700.2:p.Pro685Leu
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