Canonical Allele Identifier: CA116374
Gene: TRPM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3585
ClinVar RCV Id: RCV000003768
dbSNP Id: rs121912625
gnomAD v2: 9-77455062-G-A
gnomAD v4: 9-74840146-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74840146G>A , CM000671.2:g.74840146G>A GRCh38
NC_000009.11:g.77455062G>A , CM000671.1:g.77455062G>A GRCh37
NC_000009.10:g.76644882G>A NCBI36
NG_017036.1:g.52949C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.422C>T MANE Select ENSP00000354006.1:p.Ser141Leu
ENST00000359047.2:c.422C>T ENSP00000351942.2:p.Ser141Leu
ENST00000360774.5:c.422C>T ENSP00000354006.1:p.Ser141Leu
ENST00000361255.7:c.407C>T ENSP00000354962.3:p.Ser136Leu
ENST00000449912.6:c.407C>T ENSP00000396672.2:p.Ser136Leu
NM_001177310.1:c.407C>T NP_001170781.1:p.Ser136Leu
NM_001177311.1:c.407C>T NP_001170782.1:p.Ser136Leu
NM_017662.4:c.422C>T NP_060132.3:p.Ser141Leu
XM_011518244.1:c.422C>T XP_011516546.1:p.Ser141Leu
XM_011518245.1:c.422C>T XP_011516547.1:p.Ser141Leu
XM_011518246.1:c.422C>T XP_011516548.1:p.Ser141Leu
XM_011518247.1:c.422C>T XP_011516549.1:p.Ser141Leu
XM_011518248.1:c.422C>T XP_011516550.1:p.Ser141Leu
XM_011518249.1:c.422C>T XP_011516551.1:p.Ser141Leu
XM_011518250.1:c.422C>T XP_011516552.1:p.Ser141Leu
XM_011518252.1:c.422C>T XP_011516554.1:p.Ser141Leu
XM_011518254.1:c.422C>T XP_011516556.1:p.Ser141Leu
XM_011518255.1:c.422C>T XP_011516557.1:p.Ser141Leu
XR_929716.1:n.660C>T
XR_929717.1:n.660C>T
XR_929718.1:n.660C>T
XM_011518252.2:c.422C>T XP_011516554.1:p.Ser141Leu
XM_011518255.2:c.422C>T XP_011516557.1:p.Ser141Leu
XM_017014287.1:c.422C>T XP_016869776.1:p.Ser141Leu
XM_017014288.1:c.422C>T XP_016869777.1:p.Ser141Leu
XM_017014289.1:c.422C>T XP_016869778.1:p.Ser141Leu
XR_001746185.1:n.660C>T
XR_929717.2:n.660C>T
NM_017662.5:c.422C>T MANE Select NP_060132.3:p.Ser141Leu
NM_001177310.2:c.407C>T NP_001170781.1:p.Ser136Leu
NM_001177311.2:c.407C>T NP_001170782.1:p.Ser136Leu