Canonical Allele Identifier: CA8290334
Gene: TRPV1 HGNC NCBI

Linked Data

dbSNP Id: rs8065080
gnomAD v2: 17-3480447-T-C
gnomAD v3: 17-3577153-T-C
gnomAD v4: 17-3577153-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3577153T>C , CM000679.2:g.3577153T>C GRCh38
NC_000017.10:g.3480447T>C , CM000679.1:g.3480447T>C GRCh37
NC_000017.9:g.3427196T>C NCBI36
NG_029716.1:g.37259A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000572705.2:c.1753A>G MANE Select ENSP00000459962.1:p.Ile585Val
ENST00000650505.1:c.*234A>G ENSP00000497337.1:n.*234A>G
ENST00000310522.5:c.1573A>G ENSP00000311692.5:p.Ile525Val
ENST00000399756.8:c.1753A>G ENSP00000382659.4:p.Ile585Val
ENST00000399759.7:c.1753A>G ENSP00000382661.3:p.Ile585Val
ENST00000425167.6:c.1786A>G ENSP00000409627.2:p.Ile596Val
ENST00000570742.1:n.331A>G
ENST00000571088.5:c.1753A>G ENSP00000461007.1:p.Ile585Val
ENST00000572705.1:c.1753A>G ENSP00000459962.1:p.Ile585Val
ENST00000574085.5:n.1840A>G
ENST00000576351.5:c.1723A>G ENSP00000459042.1:p.Ile575Val
NM_018727.5:c.1753A>G NP_061197.4:p.Ile585Val
NM_080704.3:c.1753A>G NP_542435.2:p.Ile585Val
NM_080705.3:c.1753A>G NP_542436.2:p.Ile585Val
NM_080706.3:c.1753A>G NP_542437.2:p.Ile585Val
NM_080704.4:c.1753A>G MANE Select NP_542435.2:p.Ile585Val
NM_080705.4:c.1753A>G NP_542436.2:p.Ile585Val