Canonical Allele Identifier: CA117098

Gene: TRPM7

Linked Data

• ClinVar Variation Id: 4807
• ClinVar RCV Id: RCV000005076 ; RCV001095429 ; RCV001723538 ; RCV003964793
• dbSNP Id: rs8042919
• ExAC: 15:50878630 G / A
• gnomAD v2: 15-50878630-G-A
• gnomAD v3: 15-50586433-G-A
• gnomAD v4: 15-50586433-G-A
• MyVariant Identifiers: chr15:g.50878630G>A (hg19) ; chr15:g.50586433G>A (hg38)
• PubMed: PMID:16051700 ; PMID:19405049

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50586433G>A , CM000677.2:g.50586433G>A	GRCh38
NC_000015.9:g.50878630G>A , CM000677.1:g.50878630G>A	GRCh37
NC_000015.8:g.48665922G>A	NCBI36
NG_021363.1:g.105383C>T
NG_021363.2:g.105383C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645282.1:n.249C>T
ENST00000646667.1:c.4445C>T MANE Select	ENSP00000495860.1:p.Thr1482Ile
ENST00000313478.11:c.4445C>T	ENSP00000320239.7:p.Thr1482Ile
ENST00000560849.2:n.150C>T
ENST00000560955.5:c.4445C>T	ENSP00000453277.1:p.Thr1482Ile
NM_001301212.1:c.4445C>T	NP_001288141.1:p.Thr1482Ile
NM_017672.5:c.4445C>T	NP_060142.3:p.Thr1482Ile
XM_005254486.2:c.4505C>T	XP_005254543.1:p.Thr1502Ile
XM_005254487.2:c.4505C>T	XP_005254544.1:p.Thr1502Ile
XR_931853.1:n.4787C>T
NR_149152.1:n.4677C>T
NR_149153.1:n.4600C>T
NR_149154.1:n.4527C>T
XM_005254486.4:c.4505C>T	XP_005254543.1:p.Thr1502Ile
XM_017022350.1:c.4532C>T	XP_016877839.1:p.Thr1511Ile
XM_017022351.1:c.4532C>T	XP_016877840.1:p.Thr1511Ile
XM_017022352.1:c.4472C>T	XP_016877841.1:p.Thr1491Ile
XM_017022353.2:c.4472C>T	XP_016877842.1:p.Thr1491Ile
XM_017022354.1:c.4328C>T	XP_016877843.1:p.Thr1443Ile
XM_017022355.1:c.4328C>T	XP_016877844.1:p.Thr1443Ile
XR_001751325.1:n.4547C>T
XR_001751326.2:n.4547C>T
XR_001751327.1:n.4547C>T
XR_001751328.2:n.4547C>T
XR_002957654.1:n.4437C>T
NM_017672.6:c.4445C>T MANE Select	NP_060142.3:p.Thr1482Ile
NM_001301212.2:c.4445C>T	NP_001288141.1:p.Thr1482Ile
NR_149152.2:n.4659C>T
NR_149153.2:n.4582C>T
NR_149154.2:n.4509C>T