Canonical Allele Identifier: CA5083941

Gene: TRPM6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74750705A>G , CM000671.2:g.74750705A>G	GRCh38
NC_000009.11:g.77365621A>G , CM000671.1:g.77365621A>G	GRCh37
NC_000009.10:g.76555441A>G	NCBI36
NG_017036.1:g.142390T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017662.5:c.5016T>C MANE Select	NP_060132.3:p.Ser1672=
ENST00000360774.6:c.5016T>C MANE Select	ENSP00000354006.1:p.Ser1672=
NM_001177310.1:c.5001T>C	NP_001170781.1:p.Ser1667=
NM_001177310.2:c.5001T>C	NP_001170781.1:p.Ser1667=
NM_001177311.1:c.5001T>C	NP_001170782.1:p.Ser1667=
NM_001177311.2:c.5001T>C	NP_001170782.1:p.Ser1667=
NM_017662.4:c.5016T>C	NP_060132.3:p.Ser1672=
ENST00000360774.5:c.5016T>C	ENSP00000354006.1:p.Ser1672=
ENST00000361255.7:c.5001T>C	ENSP00000354962.3:p.Ser1667=
ENST00000449912.6:c.5001T>C	ENSP00000396672.2:p.Ser1667=
XM_011518244.1:c.5016T>C	XP_011516546.1:p.Ser1672=
XM_011518245.1:c.4923T>C	XP_011516547.1:p.Ser1641=
XM_011518246.1:c.5016T>C	XP_011516548.1:p.Ser1672=
XM_011518247.1:c.4887T>C	XP_011516549.1:p.Ser1629=
XM_011518248.1:c.4875T>C	XP_011516550.1:p.Ser1625=
XM_011518249.1:c.4782T>C	XP_011516551.1:p.Ser1594=
XM_011518250.1:c.4740T>C	XP_011516552.1:p.Ser1580=
XM_011518251.1:c.4287T>C	XP_011516553.1:p.Ser1429=
XM_011518251.2:c.4287T>C	XP_011516553.1:p.Ser1429=
XM_011518252.1:c.5016T>C	XP_011516554.1:p.Ser1672=
XM_011518252.2:c.5016T>C	XP_011516554.1:p.Ser1672=
XM_011518253.1:c.2949T>C	XP_011516555.1:p.Ser983=
XM_017014287.1:c.4653T>C	XP_016869776.1:p.Ser1551=
XM_017014288.1:c.4506T>C	XP_016869777.1:p.Ser1502=
XR_001746185.1:n.5254T>C
XR_929716.1:n.5254T>C