Canonical Allele Identifier: CA116366
Gene: TRPM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3575
ClinVar RCV Id: RCV000003758
dbSNP Id: rs121912622

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74802138G>C , CM000671.2:g.74802138G>C GRCh38
NC_000009.11:g.77417054G>C , CM000671.1:g.77417054G>C GRCh37
NC_000009.10:g.76606874G>C NCBI36
NG_017036.1:g.90957C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.1769C>G MANE Select ENSP00000354006.1:p.Ser590Ter
ENST00000360774.5:c.1769C>G ENSP00000354006.1:p.Ser590Ter
ENST00000361255.7:c.1754C>G ENSP00000354962.3:p.Ser585Ter
ENST00000449912.6:c.1754C>G ENSP00000396672.2:p.Ser585Ter
NM_001177310.1:c.1754C>G NP_001170781.1:p.Ser585Ter
NM_001177311.1:c.1754C>G NP_001170782.1:p.Ser585Ter
NM_017662.4:c.1769C>G NP_060132.3:p.Ser590Ter
XM_011518244.1:c.1769C>G XP_011516546.1:p.Ser590Ter
XM_011518245.1:c.1676C>G XP_011516547.1:p.Ser559Ter
XM_011518246.1:c.1769C>G XP_011516548.1:p.Ser590Ter
XM_011518247.1:c.1769C>G XP_011516549.1:p.Ser590Ter
XM_011518248.1:c.1628C>G XP_011516550.1:p.Ser543Ter
XM_011518249.1:c.1535C>G XP_011516551.1:p.Ser512Ter
XM_011518250.1:c.1769C>G XP_011516552.1:p.Ser590Ter
XM_011518251.1:c.1040C>G XP_011516553.1:p.Ser347Ter
XM_011518252.1:c.1769C>G XP_011516554.1:p.Ser590Ter
XM_011518254.1:c.1769C>G XP_011516556.1:p.Ser590Ter
XM_011518255.1:c.1769C>G XP_011516557.1:p.Ser590Ter
XR_929716.1:n.2007C>G
XR_929717.1:n.2007C>G
XR_929718.1:n.2007C>G
XM_011518251.2:c.1040C>G XP_011516553.1:p.Ser347Ter
XM_011518252.2:c.1769C>G XP_011516554.1:p.Ser590Ter
XM_011518255.2:c.1769C>G XP_011516557.1:p.Ser590Ter
XM_017014287.1:c.1535C>G XP_016869776.1:p.Ser512Ter
XM_017014288.1:c.1535C>G XP_016869777.1:p.Ser512Ter
XM_017014289.1:c.1769C>G XP_016869778.1:p.Ser590Ter
XR_001746185.1:n.2007C>G
XR_929717.2:n.2007C>G
NM_017662.5:c.1769C>G MANE Select NP_060132.3:p.Ser590Ter
NM_001177310.2:c.1754C>G NP_001170781.1:p.Ser585Ter
NM_001177311.2:c.1754C>G NP_001170782.1:p.Ser585Ter