Canonical Allele Identifier: CA373668269

Gene: TRPM6

Linked Data

• ClinVar Variation Id: 427900
• ClinVar RCV Id: RCV000491206
• dbSNP Id: rs1114167360
• MyVariant Identifiers: chr9:g.77390845G>T (hg19) ; chr9:g.74775929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74775929G>T , CM000671.2:g.74775929G>T	GRCh38
NC_000009.11:g.77390845G>T , CM000671.1:g.77390845G>T	GRCh37
NC_000009.10:g.76580665G>T	NCBI36
NG_017036.1:g.117166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360774.6:c.3357C>A MANE Select	ENSP00000354006.1:p.Cys1119Ter
ENST00000360774.5:c.3357C>A	ENSP00000354006.1:p.Cys1119Ter
ENST00000361255.7:c.3342C>A	ENSP00000354962.3:p.Cys1114Ter
ENST00000449912.6:c.3342C>A	ENSP00000396672.2:p.Cys1114Ter
NM_001177310.1:c.3342C>A	NP_001170781.1:p.Cys1114Ter
NM_001177311.1:c.3342C>A	NP_001170782.1:p.Cys1114Ter
NM_017662.4:c.3357C>A	NP_060132.3:p.Cys1119Ter
XM_011518244.1:c.3357C>A	XP_011516546.1:p.Cys1119Ter
XM_011518245.1:c.3264C>A	XP_011516547.1:p.Cys1088Ter
XM_011518246.1:c.3357C>A	XP_011516548.1:p.Cys1119Ter
XM_011518247.1:c.3228C>A	XP_011516549.1:p.Cys1076Ter
XM_011518248.1:c.3216C>A	XP_011516550.1:p.Cys1072Ter
XM_011518249.1:c.3123C>A	XP_011516551.1:p.Cys1041Ter
XM_011518250.1:c.3081C>A	XP_011516552.1:p.Cys1027Ter
XM_011518251.1:c.2628C>A	XP_011516553.1:p.Cys876Ter
XM_011518252.1:c.3357C>A	XP_011516554.1:p.Cys1119Ter
XM_011518253.1:c.1290C>A	XP_011516555.1:p.Cys430Ter
XM_011518254.1:c.3357C>A	XP_011516556.1:p.Cys1119Ter
XM_011518255.1:c.3357C>A	XP_011516557.1:p.Cys1119Ter
XR_929716.1:n.3595C>A
XR_929717.1:n.3595C>A
XR_929718.1:n.3480C>A
XM_011518251.2:c.2628C>A	XP_011516553.1:p.Cys876Ter
XM_011518252.2:c.3357C>A	XP_011516554.1:p.Cys1119Ter
XM_011518255.2:c.3357C>A	XP_011516557.1:p.Cys1119Ter
XM_017014287.1:c.2994C>A	XP_016869776.1:p.Cys998Ter
XM_017014288.1:c.2847C>A	XP_016869777.1:p.Cys949Ter
XM_017014289.1:c.3357C>A	XP_016869778.1:p.Cys1119Ter
XR_001746185.1:n.3595C>A
XR_929717.2:n.3595C>A
NM_017662.5:c.3357C>A MANE Select	NP_060132.3:p.Cys1119Ter
NM_001177310.2:c.3342C>A	NP_001170781.1:p.Cys1114Ter
NM_001177311.2:c.3342C>A	NP_001170782.1:p.Cys1114Ter