Canonical Allele Identifier: CA5084035
Gene: TRPM6 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74761731T>C , CM000671.2:g.74761731T>C GRCh38
NC_000009.11:g.77376647T>C , CM000671.1:g.77376647T>C GRCh37
NC_000009.10:g.76566467T>C NCBI36
NG_017036.1:g.131364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.4750A>G MANE Select ENSP00000354006.1:p.Lys1584Glu
ENST00000360774.5:c.4750A>G ENSP00000354006.1:p.Lys1584Glu
ENST00000361255.7:c.4735A>G ENSP00000354962.3:p.Lys1579Glu
ENST00000449912.6:c.4735A>G ENSP00000396672.2:p.Lys1579Glu
NM_001177310.1:c.4735A>G NP_001170781.1:p.Lys1579Glu
NM_001177311.1:c.4735A>G NP_001170782.1:p.Lys1579Glu
NM_017662.4:c.4750A>G NP_060132.3:p.Lys1584Glu
XM_011518244.1:c.4750A>G XP_011516546.1:p.Lys1584Glu
XM_011518245.1:c.4657A>G XP_011516547.1:p.Lys1553Glu
XM_011518246.1:c.4750A>G XP_011516548.1:p.Lys1584Glu
XM_011518247.1:c.4621A>G XP_011516549.1:p.Lys1541Glu
XM_011518248.1:c.4609A>G XP_011516550.1:p.Lys1537Glu
XM_011518249.1:c.4516A>G XP_011516551.1:p.Lys1506Glu
XM_011518250.1:c.4474A>G XP_011516552.1:p.Lys1492Glu
XM_011518251.1:c.4021A>G XP_011516553.1:p.Lys1341Glu
XM_011518252.1:c.4750A>G XP_011516554.1:p.Lys1584Glu
XM_011518253.1:c.2683A>G XP_011516555.1:p.Lys895Glu
XR_929716.1:n.4988A>G
XR_929717.1:n.4988A>G
XM_011518251.2:c.4021A>G XP_011516553.1:p.Lys1341Glu
XM_011518252.2:c.4750A>G XP_011516554.1:p.Lys1584Glu
XM_017014287.1:c.4387A>G XP_016869776.1:p.Lys1463Glu
XM_017014288.1:c.4240A>G XP_016869777.1:p.Lys1414Glu
XR_001746185.1:n.4988A>G
XR_929717.2:n.4988A>G
NM_017662.5:c.4750A>G MANE Select NP_060132.3:p.Lys1584Glu
NM_001177310.2:c.4735A>G NP_001170781.1:p.Lys1579Glu
NM_001177311.2:c.4735A>G NP_001170782.1:p.Lys1579Glu