Canonical Allele Identifier: CA8290925
Gene: TRPV1 HGNC NCBI
COSMIC:
COSM4988743 (not active)
COSM4988744 (not active)
COSM4988745 (not active)
MyVariant.info:
GRCh38 chr17:g.3592080G>A
GRCh37 chr17:g.3495374G>A
Revel Score:
ENST00000399759 0.120
ENST00000399756 0.120
ENST00000425167 0.120
ENST00000310522 0.120
gnomAD v2:
17:3495374 G / A
gnomAD v3:
17:3592080 G / A
gnomAD v4:
chr17-3592080-G-A
Joint Max Group AF 0.24102187 (EAS)
Genomes Max Group AF 0.22274536 (EAS)
Exomes Max Group AF 0.24221922 (EAS)
dbSNP:
222749
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3592080G>A , CM000679.2:g.3592080G>A GRCh38
NC_000017.10:g.3495374G>A , CM000679.1:g.3495374G>A GRCh37
NC_000017.9:g.3442123G>A NCBI36
NG_029716.1:g.22332C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000572705.2:c.271C>T MANE Select ENSP00000459962.1:p.Pro91Ser
ENST00000650505.1:c.271C>T ENSP00000497337.1:p.Pro91Ser
ENST00000310522.5:c.271C>T ENSP00000311692.5:p.Pro91Ser
ENST00000399756.8:c.271C>T ENSP00000382659.4:p.Pro91Ser
ENST00000399759.7:c.271C>T ENSP00000382661.3:p.Pro91Ser
ENST00000425167.6:c.271C>T ENSP00000409627.2:p.Pro91Ser
ENST00000571088.5:c.271C>T ENSP00000461007.1:p.Pro91Ser
ENST00000572705.1:c.271C>T ENSP00000459962.1:p.Pro91Ser
ENST00000572919.1:c.*1555C>T ENSP00000461416.1:n.*1555C>T
ENST00000574085.5:n.288C>T
ENST00000576351.5:c.271C>T ENSP00000459042.1:p.Pro91Ser
NM_018727.5:c.271C>T NP_061197.4:p.Pro91Ser
NM_080704.3:c.271C>T NP_542435.2:p.Pro91Ser
NM_080705.3:c.271C>T NP_542436.2:p.Pro91Ser
NM_080706.3:c.271C>T NP_542437.2:p.Pro91Ser
NM_080704.4:c.271C>T MANE Select NP_542435.2:p.Pro91Ser
NM_080705.4:c.271C>T NP_542436.2:p.Pro91Ser
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