Canonical Allele Identifier: CA373687588

Gene: TRPM6

Linked Data

• ClinVar Variation Id: 2476247
• ClinVar RCV Id: RCV003186534
• dbSNP Id: rs1721785139
• gnomAD v3: 9-74801922-G-A
• gnomAD v4: 9-74801922-G-A
• MyVariant Identifiers: chr9:g.77416838G>A (hg19) ; chr9:g.74801922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74801922G>A , CM000671.2:g.74801922G>A	GRCh38
NC_000009.11:g.77416838G>A , CM000671.1:g.77416838G>A	GRCh37
NC_000009.10:g.76606658G>A	NCBI36
NG_017036.1:g.91173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360774.6:c.1985C>T MANE Select	ENSP00000354006.1:p.Ser662Leu
ENST00000360774.5:c.1985C>T	ENSP00000354006.1:p.Ser662Leu
ENST00000361255.7:c.1970C>T	ENSP00000354962.3:p.Ser657Leu
ENST00000449912.6:c.1970C>T	ENSP00000396672.2:p.Ser657Leu
NM_001177310.1:c.1970C>T	NP_001170781.1:p.Ser657Leu
NM_001177311.1:c.1970C>T	NP_001170782.1:p.Ser657Leu
NM_017662.4:c.1985C>T	NP_060132.3:p.Ser662Leu
XM_011518244.1:c.1985C>T	XP_011516546.1:p.Ser662Leu
XM_011518245.1:c.1892C>T	XP_011516547.1:p.Ser631Leu
XM_011518246.1:c.1985C>T	XP_011516548.1:p.Ser662Leu
XM_011518247.1:c.1985C>T	XP_011516549.1:p.Ser662Leu
XM_011518248.1:c.1844C>T	XP_011516550.1:p.Ser615Leu
XM_011518249.1:c.1751C>T	XP_011516551.1:p.Ser584Leu
XM_011518250.1:c.1985C>T	XP_011516552.1:p.Ser662Leu
XM_011518251.1:c.1256C>T	XP_011516553.1:p.Ser419Leu
XM_011518252.1:c.1985C>T	XP_011516554.1:p.Ser662Leu
XM_011518253.1:c.-79C>T	XP_011516555.1:n.-79C>T
XM_011518254.1:c.1985C>T	XP_011516556.1:p.Ser662Leu
XM_011518255.1:c.1985C>T	XP_011516557.1:p.Ser662Leu
XR_929716.1:n.2223C>T
XR_929717.1:n.2223C>T
XR_929718.1:n.2223C>T
XM_011518251.2:c.1256C>T	XP_011516553.1:p.Ser419Leu
XM_011518252.2:c.1985C>T	XP_011516554.1:p.Ser662Leu
XM_011518255.2:c.1985C>T	XP_011516557.1:p.Ser662Leu
XM_017014287.1:c.1751C>T	XP_016869776.1:p.Ser584Leu
XM_017014288.1:c.1751C>T	XP_016869777.1:p.Ser584Leu
XM_017014289.1:c.1985C>T	XP_016869778.1:p.Ser662Leu
XR_001746185.1:n.2223C>T
XR_929717.2:n.2223C>T
NM_017662.5:c.1985C>T MANE Select	NP_060132.3:p.Ser662Leu
NM_001177310.2:c.1970C>T	NP_001170781.1:p.Ser657Leu
NM_001177311.2:c.1970C>T	NP_001170782.1:p.Ser657Leu