Canonical Allele Identifier: CA14170282
Gene: TRPM7 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.50623901A>G
GRCh37 chr15:g.50916098A>G
gnomAD v2:
15:50916098 A / G
gnomAD v3:
15:50623901 A / G
gnomAD v4:
chr15-50623901-A-G
Joint Max Group AF 0.65890193 (AFR)
Genomes Max Group AF 0.65890193 (AFR)
ClinVar RCV:
RCV001658726
ClinVar Variation:
1252425
dbSNP:
7163283
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50623901A>G , CM000677.2:g.50623901A>G GRCh38
NC_000015.9:g.50916098A>G , CM000677.1:g.50916098A>G GRCh37
NC_000015.8:g.48703390A>G NCBI36
NG_021363.1:g.67915T>C
NG_021363.2:g.67915T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646667.1:c.1440+265T>C MANE Select ENSP00000495860.1:n.1440+265T>C
ENST00000313478.11:c.1440+265T>C ENSP00000320239.7:n.1440+265T>C
ENST00000560638.1:c.51+265T>C ENSP00000452873.1:n.51+265T>C
ENST00000560955.5:c.1440+265T>C ENSP00000453277.1:n.1440+265T>C
NM_001301212.1:c.1440+265T>C NP_001288141.1:n.1440+265T>C
NM_017672.5:c.1440+265T>C NP_060142.3:n.1440+265T>C
XM_005254486.2:c.1440+265T>C XP_005254543.1:n.1440+265T>C
XM_005254487.2:c.1440+265T>C XP_005254544.1:n.1440+265T>C
XM_011521712.1:c.1440+265T>C XP_011520014.1:n.1440+265T>C
XR_931853.1:n.1722+265T>C
NR_149152.1:n.1722+265T>C
NR_149153.1:n.1722+265T>C
NR_149154.1:n.1722+265T>C
XM_005254486.4:c.1440+265T>C XP_005254543.1:n.1440+265T>C
XM_017022350.1:c.1467+265T>C XP_016877839.1:n.1467+265T>C
XM_017022351.1:c.1467+265T>C XP_016877840.1:n.1467+265T>C
XM_017022352.1:c.1467+265T>C XP_016877841.1:n.1467+265T>C
XM_017022353.2:c.1467+265T>C XP_016877842.1:n.1467+265T>C
XM_017022354.1:c.1263+265T>C XP_016877843.1:n.1263+265T>C
XM_017022355.1:c.1263+265T>C XP_016877844.1:n.1263+265T>C
XR_001751325.1:n.1482+265T>C
XR_001751326.2:n.1482+265T>C
XR_001751327.1:n.1482+265T>C
XR_001751328.2:n.1482+265T>C
XR_002957653.1:n.1482+265T>C
XR_002957654.1:n.1482+265T>C
NM_017672.6:c.1440+265T>C MANE Select NP_060142.3:n.1440+265T>C
NM_001301212.2:c.1440+265T>C NP_001288141.1:n.1440+265T>C
NR_149152.2:n.1704+265T>C
NR_149153.2:n.1704+265T>C
NR_149154.2:n.1704+265T>C
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