Canonical Allele Identifier: CA5362788
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 672139
ClinVar RCV Id: RCV000831359
dbSNP Id: rs149753507
ExAC: 9:140093908 G / A
gnomAD v2: 9-140093908-G-A
gnomAD v3: 9-137199456-G-A
gnomAD v4: 9-137199456-G-A
MyVariant Identifiers: chr9:g.140093908G>A (hg19) chr9:g.137199456G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199456G>A , CM000671.2:g.137199456G>A GRCh38
NC_000009.11:g.140093908G>A , CM000671.1:g.140093908G>A GRCh37
NC_000009.10:g.139213729G>A NCBI36
NG_027801.1:g.6256C>T
NG_027801.2:g.9738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1256C>T MANE Select ENSP00000387100.4:p.Pro419Leu
ENST00000333046.8:c.650C>T ENSP00000327617.4:p.Pro217Leu
ENST00000409012.4:c.1256C>T ENSP00000387100.4:p.Pro419Leu
ENST00000541945.1:n.90+4648C>T
NM_001128228.2:c.1256C>T NP_001121700.2:p.Pro419Leu
NM_001128228.3:c.1256C>T MANE Select NP_001121700.2:p.Pro419Leu
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