Canonical Allele Identifier: CA375776031
Gene: TPRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199298G>T , CM000671.2:g.137199298G>T GRCh38
NC_000009.11:g.140093750G>T , CM000671.1:g.140093750G>T GRCh37
NC_000009.10:g.139213571G>T NCBI36
NG_027801.1:g.6414C>A
NG_027801.2:g.9896C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1414C>A MANE Select ENSP00000387100.4:p.Leu472Ile
ENST00000333046.8:c.808C>A ENSP00000327617.4:p.Leu270Ile
ENST00000409012.4:c.1414C>A ENSP00000387100.4:p.Leu472Ile
ENST00000541945.1:n.90+4806C>A
NM_001128228.2:c.1414C>A NP_001121700.2:p.Leu472Ile
NM_001128228.3:c.1414C>A MANE Select NP_001121700.2:p.Leu472Ile