Canonical Allele Identifier: CA399654869
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41061369G>C (hg19) chr17:g.42909352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909352G>C , CM000679.2:g.42909352G>C GRCh38
NC_000017.10:g.41061369G>C , CM000679.1:g.41061369G>C GRCh37
NC_000017.9:g.38314895G>C NCBI36
NG_011808.1:g.13555G>C , LRG_147:g.13555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.496G>C MANE Select ENSP00000253801.1:p.Val166Leu
ENST00000253801.6:c.496G>C ENSP00000253801.1:p.Val166Leu
ENST00000585489.1:c.447-1563G>C ENSP00000466202.1:n.447-1563G>C
ENST00000592383.5:c.419G>C ENSP00000465958.1:p.Cys140Ser
NM_000151.3:c.496G>C NP_000142.2:p.Val166Leu
NM_001270397.1:c.419G>C NP_001257326.1:p.Cys140Ser
NM_000151.4:c.496G>C MANE Select NP_000142.2:p.Val166Leu
NM_001270397.2:c.419G>C NP_001257326.1:p.Cys140Ser
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