Canonical Allele Identifier: CA375776740
Gene: TPRN HGNC NCBI

Linked Data

gnomAD v4: 9-137199400-C-G
MyVariant Identifiers: chr9:g.140093852C>G (hg19) chr9:g.137199400C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199400C>G , CM000671.2:g.137199400C>G GRCh38
NC_000009.11:g.140093852C>G , CM000671.1:g.140093852C>G GRCh37
NC_000009.10:g.139213673C>G NCBI36
NG_027801.1:g.6312G>C
NG_027801.2:g.9794G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1312G>C MANE Select ENSP00000387100.4:p.Val438Leu
ENST00000333046.8:c.706G>C ENSP00000327617.4:p.Val236Leu
ENST00000409012.4:c.1312G>C ENSP00000387100.4:p.Val438Leu
ENST00000541945.1:n.90+4704G>C
NM_001128228.2:c.1312G>C NP_001121700.2:p.Val438Leu
NM_001128228.3:c.1312G>C MANE Select NP_001121700.2:p.Val438Leu
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