Canonical Allele Identifier: CA5084228

Gene: TRPM6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74762990A>G , CM000671.2:g.74762990A>G	GRCh38
NC_000009.11:g.77377906A>G , CM000671.1:g.77377906A>G	GRCh37
NC_000009.10:g.76567726A>G	NCBI36
NG_017036.1:g.130105T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017662.5:c.3681T>C MANE Select	NP_060132.3:p.Ala1227=
ENST00000360774.6:c.3681T>C MANE Select	ENSP00000354006.1:p.Ala1227=
NM_001177310.1:c.3666T>C	NP_001170781.1:p.Ala1222=
NM_001177310.2:c.3666T>C	NP_001170781.1:p.Ala1222=
NM_001177311.1:c.3666T>C	NP_001170782.1:p.Ala1222=
NM_001177311.2:c.3666T>C	NP_001170782.1:p.Ala1222=
NM_017662.4:c.3681T>C	NP_060132.3:p.Ala1227=
ENST00000360774.5:c.3681T>C	ENSP00000354006.1:p.Ala1227=
ENST00000361255.7:c.3666T>C	ENSP00000354962.3:p.Ala1222=
ENST00000449912.6:c.3666T>C	ENSP00000396672.2:p.Ala1222=
XM_011518244.1:c.3681T>C	XP_011516546.1:p.Ala1227=
XM_011518245.1:c.3588T>C	XP_011516547.1:p.Ala1196=
XM_011518246.1:c.3681T>C	XP_011516548.1:p.Ala1227=
XM_011518247.1:c.3552T>C	XP_011516549.1:p.Ala1184=
XM_011518248.1:c.3540T>C	XP_011516550.1:p.Ala1180=
XM_011518249.1:c.3447T>C	XP_011516551.1:p.Ala1149=
XM_011518250.1:c.3405T>C	XP_011516552.1:p.Ala1135=
XM_011518251.1:c.2952T>C	XP_011516553.1:p.Ala984=
XM_011518251.2:c.2952T>C	XP_011516553.1:p.Ala984=
XM_011518252.1:c.3681T>C	XP_011516554.1:p.Ala1227=
XM_011518252.2:c.3681T>C	XP_011516554.1:p.Ala1227=
XM_011518253.1:c.1614T>C	XP_011516555.1:p.Ala538=
XM_017014287.1:c.3318T>C	XP_016869776.1:p.Ala1106=
XM_017014288.1:c.3171T>C	XP_016869777.1:p.Ala1057=
XM_017014289.1:c.3681T>C	XP_016869778.1:p.Ala1227=
XR_001746185.1:n.3919T>C
XR_929716.1:n.3919T>C
XR_929717.1:n.3919T>C
XR_929717.2:n.3919T>C