Canonical Allele Identifier: CA5084711

Gene: TRPM6

Linked Data

• dbSNP Id: rs756376587
• ExAC: 9:77416981 C / T
• gnomAD v2: 9-77416981-C-T
• gnomAD v4: 9-74802065-C-T
• MyVariant Identifiers: chr9:g.77416981C>T (hg19) ; chr9:g.74802065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74802065C>T , CM000671.2:g.74802065C>T	GRCh38
NC_000009.11:g.77416981C>T , CM000671.1:g.77416981C>T	GRCh37
NC_000009.10:g.76606801C>T	NCBI36
NG_017036.1:g.91030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360774.6:c.1842G>A MANE Select	ENSP00000354006.1:p.Trp614Ter
ENST00000360774.5:c.1842G>A	ENSP00000354006.1:p.Trp614Ter
ENST00000361255.7:c.1827G>A	ENSP00000354962.3:p.Trp609Ter
ENST00000449912.6:c.1827G>A	ENSP00000396672.2:p.Trp609Ter
NM_001177310.1:c.1827G>A	NP_001170781.1:p.Trp609Ter
NM_001177311.1:c.1827G>A	NP_001170782.1:p.Trp609Ter
NM_017662.4:c.1842G>A	NP_060132.3:p.Trp614Ter
XM_011518244.1:c.1842G>A	XP_011516546.1:p.Trp614Ter
XM_011518245.1:c.1749G>A	XP_011516547.1:p.Trp583Ter
XM_011518246.1:c.1842G>A	XP_011516548.1:p.Trp614Ter
XM_011518247.1:c.1842G>A	XP_011516549.1:p.Trp614Ter
XM_011518248.1:c.1701G>A	XP_011516550.1:p.Trp567Ter
XM_011518249.1:c.1608G>A	XP_011516551.1:p.Trp536Ter
XM_011518250.1:c.1842G>A	XP_011516552.1:p.Trp614Ter
XM_011518251.1:c.1113G>A	XP_011516553.1:p.Trp371Ter
XM_011518252.1:c.1842G>A	XP_011516554.1:p.Trp614Ter
XM_011518254.1:c.1842G>A	XP_011516556.1:p.Trp614Ter
XM_011518255.1:c.1842G>A	XP_011516557.1:p.Trp614Ter
XR_929716.1:n.2080G>A
XR_929717.1:n.2080G>A
XR_929718.1:n.2080G>A
XM_011518251.2:c.1113G>A	XP_011516553.1:p.Trp371Ter
XM_011518252.2:c.1842G>A	XP_011516554.1:p.Trp614Ter
XM_011518255.2:c.1842G>A	XP_011516557.1:p.Trp614Ter
XM_017014287.1:c.1608G>A	XP_016869776.1:p.Trp536Ter
XM_017014288.1:c.1608G>A	XP_016869777.1:p.Trp536Ter
XM_017014289.1:c.1842G>A	XP_016869778.1:p.Trp614Ter
XR_001746185.1:n.2080G>A
XR_929717.2:n.2080G>A
NM_017662.5:c.1842G>A MANE Select	NP_060132.3:p.Trp614Ter
NM_001177310.2:c.1827G>A	NP_001170781.1:p.Trp609Ter
NM_001177311.2:c.1827G>A	NP_001170782.1:p.Trp609Ter