Canonical Allele Identifier: CA3791879
Gene: GLP1R HGNC NCBI
COSMIC:
COSM4161141
dbSNP:
10305420
gnomAD v2:
6:39016636 C / T
gnomAD v3:
6:39048860 C / T
gnomAD v4:
chr6-39048860-C-T
Joint Max Group AF 0.38802674 (NFE)
Genomes Max Group AF 0.37833646 (NFE)
Exomes Max Group AF 0.38843145 (NFE)
MyVariant.info:
GRCh38 chr6:g.39048860C>T
GRCh37 chr6:g.39016636C>T
Revel Score:
ENST00000373256 (MANE Select) 0.050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39048860C>T , CM000668.2:g.39048860C>T GRCh38
NC_000006.11:g.39016636C>T , CM000668.1:g.39016636C>T GRCh37
NC_000006.10:g.39124614C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373256.5:c.20C>T MANE Select ENSP00000362353.4:p.Pro7Leu
ENST00000373256.4:c.20C>T ENSP00000362353.4:p.Pro7Leu
NM_002062.3:c.20C>T NP_002053.3:p.Pro7Leu
XR_926153.1:n.80C>T
XR_926154.1:n.80C>T
XR_926155.1:n.80C>T
NM_002062.4:c.20C>T NP_002053.3:p.Pro7Leu
NR_136562.1:n.80C>T
NR_136563.1:n.80C>T
NM_002062.5:c.20C>T MANE Select NP_002053.3:p.Pro7Leu
NR_136562.2:n.80C>T
NR_136563.2:n.80C>T
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