Canonical Allele Identifier: CA8587678
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067161
ClinVar RCV Id: RCV002943834
dbSNP Id: rs753486821
ExAC: 17:41063313 C / T
gnomAD v2: 17-41063313-C-T
gnomAD v3: 17-42911296-C-T
gnomAD v4: 17-42911296-C-T
MyVariant Identifiers: chr17:g.41063313C>T (hg19) chr17:g.42911296C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911296C>T , CM000679.2:g.42911296C>T GRCh38
NC_000017.10:g.41063313C>T , CM000679.1:g.41063313C>T GRCh37
NC_000017.9:g.38316839C>T NCBI36
NG_011808.1:g.15499C>T , LRG_147:g.15499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.944C>T MANE Select ENSP00000253801.1:p.Pro315Leu
ENST00000253801.6:c.944C>T ENSP00000253801.1:p.Pro315Leu
ENST00000585489.1:c.*336C>T ENSP00000466202.1:n.*336C>T
ENST00000592383.5:c.*336C>T ENSP00000465958.1:n.*336C>T
NM_000151.3:c.944C>T NP_000142.2:p.Pro315Leu
NM_001270397.1:c.*336C>T NP_001257326.1:n.*336C>T
NM_000151.4:c.944C>T MANE Select NP_000142.2:p.Pro315Leu
NM_001270397.2:c.*336C>T NP_001257326.1:n.*336C>T
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