Canonical Allele Identifier: CA397690331
Gene: TRPV1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.3583408G>C
GRCh37 chr17:g.3486702G>C
Revel Score:
ENST00000399759 0.201
ENST00000399756 0.201
ENST00000174621 0.201
ENST00000425167 0.201
ENST00000310522 0.201
gnomAD v3:
17:3583408 G / C
gnomAD v4:
chr17-3583408-G-C
Joint Max Group AF 0.0001716 (EAS)
Exomes Max Group AF 0.0001752 (EAS)
dbSNP:
224534
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000572705.2:c.1406C>G MANE Select ENSP00000459962.1:p.Thr469Ser
ENST00000650505.1:c.1406C>G ENSP00000497337.1:p.Thr469Ser
ENST00000310522.5:c.1226C>G ENSP00000311692.5:p.Thr409Ser
ENST00000399756.8:c.1406C>G ENSP00000382659.4:p.Thr469Ser
ENST00000399759.7:c.1406C>G ENSP00000382661.3:p.Thr469Ser
ENST00000425167.6:c.1439C>G ENSP00000409627.2:p.Thr480Ser
ENST00000571088.5:c.1406C>G ENSP00000461007.1:p.Thr469Ser
ENST00000572705.1:c.1406C>G ENSP00000459962.1:p.Thr469Ser
ENST00000574085.5:n.1493C>G
ENST00000576351.5:c.1376C>G ENSP00000459042.1:p.Thr459Ser
NM_018727.5:c.1406C>G NP_061197.4:p.Thr469Ser
NM_080704.3:c.1406C>G NP_542435.2:p.Thr469Ser
NM_080705.3:c.1406C>G NP_542436.2:p.Thr469Ser
NM_080706.3:c.1406C>G NP_542437.2:p.Thr469Ser
NM_080704.4:c.1406C>G MANE Select NP_542435.2:p.Thr469Ser
NM_080705.4:c.1406C>G NP_542436.2:p.Thr469Ser
Search 100 bp 5'
Search 100 bp 3'