Canonical Allele Identifier: CA3792066
Gene: GLP1R HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.39066296G>C
GRCh37 chr6:g.39034072G>C
Revel Score:
ENST00000373256 (MANE Select) 0.130
gnomAD v2:
6:39034072 G / C
gnomAD v3:
6:39066296 G / C
gnomAD v4:
chr6-39066296-G-C
Joint Max Group AF 0.00000813 (NFE)
Exomes Max Group AF 0.00000821 (NFE)
dbSNP:
6923761
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39066296G>C , CM000668.2:g.39066296G>C GRCh38
NC_000006.11:g.39034072G>C , CM000668.1:g.39034072G>C GRCh37
NC_000006.10:g.39142050G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373256.5:c.502G>C MANE Select ENSP00000362353.4:p.Gly168Arg
ENST00000373256.4:c.502G>C ENSP00000362353.4:p.Gly168Arg
NM_002062.3:c.502G>C NP_002053.3:p.Gly168Arg
XR_926153.1:n.562G>C
XR_926154.1:n.562G>C
XR_926155.1:n.562G>C
NM_002062.4:c.502G>C NP_002053.3:p.Gly168Arg
NR_136562.1:n.562G>C
NR_136563.1:n.562G>C
XM_017010750.1:c.517G>C XP_016866239.1:p.Gly173Arg
XM_017010751.1:c.517G>C XP_016866240.1:p.Gly173Arg
XR_001743346.1:n.1097G>C
XR_001743347.1:n.1097G>C
XR_001743348.1:n.1097G>C
NM_002062.5:c.502G>C MANE Select NP_002053.3:p.Gly168Arg
NR_136562.2:n.562G>C
NR_136563.2:n.562G>C
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