Canonical Allele Identifier: CA5362753
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1431603
ClinVar RCV Id: RCV001940831
dbSNP Id: rs369288822
ExAC: 9:140093778 G / T
gnomAD v2: 9-140093778-G-T
gnomAD v3: 9-137199326-G-T
gnomAD v4: 9-137199326-G-T
MyVariant Identifiers: chr9:g.140093778G>T (hg19) chr9:g.137199326G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199326G>T , CM000671.2:g.137199326G>T GRCh38
NC_000009.11:g.140093778G>T , CM000671.1:g.140093778G>T GRCh37
NC_000009.10:g.139213599G>T NCBI36
NG_027801.1:g.6386C>A
NG_027801.2:g.9868C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1386C>A MANE Select ENSP00000387100.4:p.Asp462Glu
ENST00000333046.8:c.780C>A ENSP00000327617.4:p.Asp260Glu
ENST00000409012.4:c.1386C>A ENSP00000387100.4:p.Asp462Glu
ENST00000541945.1:n.90+4778C>A
NM_001128228.2:c.1386C>A NP_001121700.2:p.Asp462Glu
NM_001128228.3:c.1386C>A MANE Select NP_001121700.2:p.Asp462Glu
Search 100 bp 5'
Search 100 bp 3'