Canonical Allele Identifier: CA5362765
Gene: TPRN HGNC NCBI

Linked Data

dbSNP Id: rs759671820
ExAC: 9:140093821 T / A
gnomAD v2: 9-140093821-T-A
gnomAD v3: 9-137199369-T-A
gnomAD v4: 9-137199369-T-A
MyVariant Identifiers: chr9:g.140093821T>A (hg19) chr9:g.137199369T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199369T>A , CM000671.2:g.137199369T>A GRCh38
NC_000009.11:g.140093821T>A , CM000671.1:g.140093821T>A GRCh37
NC_000009.10:g.139213642T>A NCBI36
NG_027801.1:g.6343A>T
NG_027801.2:g.9825A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1343A>T MANE Select ENSP00000387100.4:p.Tyr448Phe
ENST00000333046.8:c.737A>T ENSP00000327617.4:p.Tyr246Phe
ENST00000409012.4:c.1343A>T ENSP00000387100.4:p.Tyr448Phe
ENST00000541945.1:n.90+4735A>T
NM_001128228.2:c.1343A>T NP_001121700.2:p.Tyr448Phe
NM_001128228.3:c.1343A>T MANE Select NP_001121700.2:p.Tyr448Phe
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