Canonical Allele Identifier: CA399651240
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2441597
ClinVar RCV Id: RCV003143435
MyVariant Identifiers: chr17:g.41053082G>C (hg19) chr17:g.42901065G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901065G>C , CM000679.2:g.42901065G>C GRCh38
NC_000017.10:g.41053082G>C , CM000679.1:g.41053082G>C GRCh37
NC_000017.9:g.38306608G>C NCBI36
NG_011808.1:g.5268G>C , LRG_147:g.5268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.189G>C MANE Select ENSP00000253801.1:p.Trp63Cys
ENST00000253801.6:c.189G>C ENSP00000253801.1:p.Trp63Cys
ENST00000585489.1:c.189G>C ENSP00000466202.1:p.Trp63Cys
ENST00000588481.1:n.254G>C
ENST00000592383.5:c.189G>C ENSP00000465958.1:p.Trp63Cys
NM_000151.3:c.189G>C NP_000142.2:p.Trp63Cys
NM_001270397.1:c.189G>C NP_001257326.1:p.Trp63Cys
NM_000151.4:c.189G>C MANE Select NP_000142.2:p.Trp63Cys
NM_001270397.2:c.189G>C NP_001257326.1:p.Trp63Cys
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