Canonical Allele Identifier: CA201721090
Gene: TPRN HGNC NCBI

Linked Data

dbSNP Id: rs917279081

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199431C>G , CM000671.2:g.137199431C>G GRCh38
NC_000009.11:g.140093883C>G , CM000671.1:g.140093883C>G GRCh37
NC_000009.10:g.139213704C>G NCBI36
NG_027801.1:g.6281G>C
NG_027801.2:g.9763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1281G>C MANE Select ENSP00000387100.4:p.Ser427=
ENST00000333046.8:c.675G>C ENSP00000327617.4:p.Ser225=
ENST00000409012.4:c.1281G>C ENSP00000387100.4:p.Ser427=
ENST00000541945.1:n.90+4673G>C
NM_001128228.2:c.1281G>C NP_001121700.2:p.Ser427=
NM_001128228.3:c.1281G>C MANE Select NP_001121700.2:p.Ser427=