Canonical Allele Identifier: CA373688541

Gene: TRPM6

Linked Data

• ClinVar Variation Id: 2501859
• ClinVar RCV Id: RCV003228278
• MyVariant Identifiers: chr9:g.77416958T>G (hg19) ; chr9:g.74802042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74802042T>G , CM000671.2:g.74802042T>G	GRCh38
NC_000009.11:g.77416958T>G , CM000671.1:g.77416958T>G	GRCh37
NC_000009.10:g.76606778T>G	NCBI36
NG_017036.1:g.91053A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360774.6:c.1865A>C MANE Select	ENSP00000354006.1:p.Lys622Thr
ENST00000360774.5:c.1865A>C	ENSP00000354006.1:p.Lys622Thr
ENST00000361255.7:c.1850A>C	ENSP00000354962.3:p.Lys617Thr
ENST00000449912.6:c.1850A>C	ENSP00000396672.2:p.Lys617Thr
NM_001177310.1:c.1850A>C	NP_001170781.1:p.Lys617Thr
NM_001177311.1:c.1850A>C	NP_001170782.1:p.Lys617Thr
NM_017662.4:c.1865A>C	NP_060132.3:p.Lys622Thr
XM_011518244.1:c.1865A>C	XP_011516546.1:p.Lys622Thr
XM_011518245.1:c.1772A>C	XP_011516547.1:p.Lys591Thr
XM_011518246.1:c.1865A>C	XP_011516548.1:p.Lys622Thr
XM_011518247.1:c.1865A>C	XP_011516549.1:p.Lys622Thr
XM_011518248.1:c.1724A>C	XP_011516550.1:p.Lys575Thr
XM_011518249.1:c.1631A>C	XP_011516551.1:p.Lys544Thr
XM_011518250.1:c.1865A>C	XP_011516552.1:p.Lys622Thr
XM_011518251.1:c.1136A>C	XP_011516553.1:p.Lys379Thr
XM_011518252.1:c.1865A>C	XP_011516554.1:p.Lys622Thr
XM_011518254.1:c.1865A>C	XP_011516556.1:p.Lys622Thr
XM_011518255.1:c.1865A>C	XP_011516557.1:p.Lys622Thr
XR_929716.1:n.2103A>C
XR_929717.1:n.2103A>C
XR_929718.1:n.2103A>C
XM_011518251.2:c.1136A>C	XP_011516553.1:p.Lys379Thr
XM_011518252.2:c.1865A>C	XP_011516554.1:p.Lys622Thr
XM_011518255.2:c.1865A>C	XP_011516557.1:p.Lys622Thr
XM_017014287.1:c.1631A>C	XP_016869776.1:p.Lys544Thr
XM_017014288.1:c.1631A>C	XP_016869777.1:p.Lys544Thr
XM_017014289.1:c.1865A>C	XP_016869778.1:p.Lys622Thr
XR_001746185.1:n.2103A>C
XR_929717.2:n.2103A>C
NM_017662.5:c.1865A>C MANE Select	NP_060132.3:p.Lys622Thr
NM_001177310.2:c.1850A>C	NP_001170781.1:p.Lys617Thr
NM_001177311.2:c.1850A>C	NP_001170782.1:p.Lys617Thr