Canonical Allele Identifier: CA5362739
Gene: TPRN HGNC NCBI

Linked Data

dbSNP Id: rs769203462
ExAC: 9:140093737 G / A
gnomAD v2: 9-140093737-G-A
gnomAD v4: 9-137199285-G-A
MyVariant Identifiers: chr9:g.140093737G>A (hg19) chr9:g.137199285G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199285G>A , CM000671.2:g.137199285G>A GRCh38
NC_000009.11:g.140093737G>A , CM000671.1:g.140093737G>A GRCh37
NC_000009.10:g.139213558G>A NCBI36
NG_027801.1:g.6427C>T
NG_027801.2:g.9909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1427C>T MANE Select ENSP00000387100.4:p.Pro476Leu
ENST00000333046.8:c.821C>T ENSP00000327617.4:p.Pro274Leu
ENST00000409012.4:c.1427C>T ENSP00000387100.4:p.Pro476Leu
ENST00000541945.1:n.90+4819C>T
NM_001128228.2:c.1427C>T NP_001121700.2:p.Pro476Leu
NM_001128228.3:c.1427C>T MANE Select NP_001121700.2:p.Pro476Leu
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