Canonical Allele Identifier: CA5821549
Gene: TRPM5 HGNC NCBI
COSMIC:
COSM3752298 (not active)
MyVariant.info:
GRCh38 chr11:g.2415234C>T
GRCh37 chr11:g.2436464C>T
Revel Score:
ENST00000533881 0.031
ENST00000155858 0.031
ENST00000452833 0.031
ENST00000533060 0.031
ENST00000528453 0.031
ENST00000437542 0.031
gnomAD v2:
11:2436464 C / T
gnomAD v3:
11:2415234 C / T
gnomAD v4:
chr11-2415234-C-T
Joint Max Group AF 0.03540466 (NFE)
Genomes Max Group AF 0.0339134 (NFE)
Exomes Max Group AF 0.03543378 (NFE)
dbSNP:
34551253
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2415234C>T , CM000673.2:g.2415234C>T GRCh38
NC_000011.9:g.2436464C>T , CM000673.1:g.2436464C>T GRCh37
NC_000011.8:g.2393040C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696290.1:c.1366G>A MANE Select ENSP00000512529.1:p.Ala456Thr
ENST00000155858.10:c.1366G>A ENSP00000155858.5:p.Ala456Thr
ENST00000528453.1:c.1366G>A ENSP00000436809.1:p.Ala456Thr
ENST00000533060.5:c.1366G>A ENSP00000434121.1:p.Ala456Thr
ENST00000533881.5:c.1348G>A ENSP00000434383.1:p.Ala450Thr
NM_014555.3:c.1366G>A NP_055370.1:p.Ala456Thr
XM_011520035.1:c.1627G>A XP_011518337.1:p.Ala543Thr
XM_017017628.1:c.1420G>A XP_016873117.1:p.Ala474Thr
NM_014555.4:c.1366G>A MANE Select NP_055370.1:p.Ala456Thr
Search 100 bp 5'
Search 100 bp 3'