Canonical Allele Identifier: CA8290462
Gene: TRPV1 HGNC NCBI
COSMIC:
COSM3755418 (not active)
COSM3755419 (not active)
COSM3755420 (not active)
MyVariant.info:
GRCh38 chr17:g.3583408G>A
GRCh37 chr17:g.3486702G>A
Revel Score:
ENST00000399759 0.442
ENST00000399756 0.442
ENST00000174621 0.442
ENST00000425167 0.442
ENST00000310522 0.442
gnomAD v2:
17:3486702 G / A
gnomAD v3:
17:3583408 G / A
gnomAD v4:
chr17-3583408-G-A
Joint Max Group AF 0.7483876 (EAS)
Genomes Max Group AF 0.75061257 (EAS)
Exomes Max Group AF 0.74594505 (EAS)
dbSNP:
224534
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3583408G>A , CM000679.2:g.3583408G>A GRCh38
NC_000017.10:g.3486702G>A , CM000679.1:g.3486702G>A GRCh37
NC_000017.9:g.3433451G>A NCBI36
NG_029716.1:g.31004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000572705.2:c.1406C>T MANE Select ENSP00000459962.1:p.Thr469Ile
ENST00000650505.1:c.1406C>T ENSP00000497337.1:p.Thr469Ile
ENST00000310522.5:c.1226C>T ENSP00000311692.5:p.Thr409Ile
ENST00000399756.8:c.1406C>T ENSP00000382659.4:p.Thr469Ile
ENST00000399759.7:c.1406C>T ENSP00000382661.3:p.Thr469Ile
ENST00000425167.6:c.1439C>T ENSP00000409627.2:p.Thr480Ile
ENST00000571088.5:c.1406C>T ENSP00000461007.1:p.Thr469Ile
ENST00000572705.1:c.1406C>T ENSP00000459962.1:p.Thr469Ile
ENST00000574085.5:n.1493C>T
ENST00000576351.5:c.1376C>T ENSP00000459042.1:p.Thr459Ile
NM_018727.5:c.1406C>T NP_061197.4:p.Thr469Ile
NM_080704.3:c.1406C>T NP_542435.2:p.Thr469Ile
NM_080705.3:c.1406C>T NP_542436.2:p.Thr469Ile
NM_080706.3:c.1406C>T NP_542437.2:p.Thr469Ile
NM_080704.4:c.1406C>T MANE Select NP_542435.2:p.Thr469Ile
NM_080705.4:c.1406C>T NP_542436.2:p.Thr469Ile
Search 100 bp 5'
Search 100 bp 3'