Canonical Allele Identifier: CA397693090
Gene: TRPV1 HGNC NCBI

Linked Data

dbSNP Id: rs222747
gnomAD v2: 17-3493200-C-T
gnomAD v4: 17-3589906-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3589906C>T , CM000679.2:g.3589906C>T GRCh38
NC_000017.10:g.3493200C>T , CM000679.1:g.3493200C>T GRCh37
NC_000017.9:g.3439949C>T NCBI36
NG_029716.1:g.24506G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000572705.2:c.945G>A MANE Select ENSP00000459962.1:p.Met315Ile
ENST00000650505.1:c.945G>A ENSP00000497337.1:p.Met315Ile
ENST00000310522.5:c.945G>A ENSP00000311692.5:p.Met315Ile
ENST00000399756.8:c.945G>A ENSP00000382659.4:p.Met315Ile
ENST00000399759.7:c.945G>A ENSP00000382661.3:p.Met315Ile
ENST00000425167.6:c.945G>A ENSP00000409627.2:p.Met315Ile
ENST00000571088.5:c.945G>A ENSP00000461007.1:p.Met315Ile
ENST00000572705.1:c.945G>A ENSP00000459962.1:p.Met315Ile
ENST00000572919.1:c.*2229G>A ENSP00000461416.1:n.*2229G>A
ENST00000574085.5:n.1032G>A
ENST00000576351.5:c.945G>A ENSP00000459042.1:p.Met315Ile
NM_018727.5:c.945G>A NP_061197.4:p.Met315Ile
NM_080704.3:c.945G>A NP_542435.2:p.Met315Ile
NM_080705.3:c.945G>A NP_542436.2:p.Met315Ile
NM_080706.3:c.945G>A NP_542437.2:p.Met315Ile
NM_080704.4:c.945G>A MANE Select NP_542435.2:p.Met315Ile
NM_080705.4:c.945G>A NP_542436.2:p.Met315Ile