Canonical Allele Identifier: CA13681846
Gene: M6PR HGNC NCBI
COSMIC:
COSN19626896 (not active)
MyVariant.info:
GRCh38 chr12:g.8945306C>G
GRCh37 chr12:g.9097902C>G
gnomAD v2:
12:9097902 C / G
gnomAD v3:
12:8945306 C / G
gnomAD v4:
chr12-8945306-C-G
Joint Max Group AF 0.23489717 (EAS)
Genomes Max Group AF 0.22924245 (EAS)
Exomes Max Group AF 0.23442083 (EAS)
dbSNP:
1805762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8945306C>G , CM000674.2:g.8945306C>G GRCh38
NC_000012.11:g.9097902C>G , CM000674.1:g.9097902C>G GRCh37
NC_000012.10:g.8989169C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000000412.8:c.343+112G>C MANE Select ENSP00000000412.3:n.343+112G>C
ENST00000000412.7:c.343+112G>C ENSP00000000412.3:n.343+112G>C
ENST00000536844.5:c.343+112G>C ENSP00000440488.2:n.343+112G>C
ENST00000540837.1:n.579G>C
ENST00000541507.5:c.343+112G>C ENSP00000442100.1:n.343+112G>C
ENST00000543258.1:c.179+112G>C
ENST00000543704.5:c.66+997G>C ENSP00000437595.1:n.66+997G>C
ENST00000543834.1:n.62+112G>C
ENST00000544245.1:c.-12+112G>C ENSP00000439968.1:n.-12+112G>C
NM_001207024.1:c.343+112G>C NP_001193953.1:n.343+112G>C
NM_002355.3:c.343+112G>C NP_002346.1:n.343+112G>C
XM_005253376.1:c.343+112G>C XP_005253433.1:n.343+112G>C
XM_011520672.1:c.343+112G>C XP_011518974.1:n.343+112G>C
XM_005253376.2:c.343+112G>C XP_005253433.1:n.343+112G>C
NM_002355.4:c.343+112G>C MANE Select NP_002346.1:n.343+112G>C
NM_001207024.2:c.343+112G>C NP_001193953.1:n.343+112G>C
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