Canonical Allele Identifier: CA399653194
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000600
ClinVar RCV Id: RCV001296755
dbSNP Id: rs2056043139
MyVariant Identifiers: chr17:g.41055973T>C (hg19) chr17:g.42903956T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42903956T>C , CM000679.2:g.42903956T>C GRCh38
NC_000017.10:g.41055973T>C , CM000679.1:g.41055973T>C GRCh37
NC_000017.9:g.38309499T>C NCBI36
NG_011808.1:g.8159T>C , LRG_147:g.8159T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.256T>C MANE Select ENSP00000253801.1:p.Trp86Arg
ENST00000253801.6:c.256T>C ENSP00000253801.1:p.Trp86Arg
ENST00000585489.1:c.256T>C ENSP00000466202.1:p.Trp86Arg
ENST00000588481.1:n.321T>C
ENST00000592383.5:c.256T>C ENSP00000465958.1:p.Trp86Arg
NM_000151.3:c.256T>C NP_000142.2:p.Trp86Arg
NM_001270397.1:c.256T>C NP_001257326.1:p.Trp86Arg
NM_000151.4:c.256T>C MANE Select NP_000142.2:p.Trp86Arg
NM_001270397.2:c.256T>C NP_001257326.1:p.Trp86Arg
Search 100 bp 5'
Search 100 bp 3'