Canonical Allele Identifier: CA5362787
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2699492
ClinVar RCV Id: RCV003544632
dbSNP Id: rs139972044
ExAC: 9:140093907 C / T
gnomAD v2: 9-140093907-C-T
gnomAD v3: 9-137199455-C-T
gnomAD v4: 9-137199455-C-T
MyVariant Identifiers: chr9:g.140093907C>T (hg19) chr9:g.137199455C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199455C>T , CM000671.2:g.137199455C>T GRCh38
NC_000009.11:g.140093907C>T , CM000671.1:g.140093907C>T GRCh37
NC_000009.10:g.139213728C>T NCBI36
NG_027801.1:g.6257G>A
NG_027801.2:g.9739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1257G>A MANE Select ENSP00000387100.4:p.Pro419=
ENST00000333046.8:c.651G>A ENSP00000327617.4:p.Pro217=
ENST00000409012.4:c.1257G>A ENSP00000387100.4:p.Pro419=
ENST00000541945.1:n.90+4649G>A
NM_001128228.2:c.1257G>A NP_001121700.2:p.Pro419=
NM_001128228.3:c.1257G>A MANE Select NP_001121700.2:p.Pro419=
Search 100 bp 5'
Search 100 bp 3'