Canonical Allele Identifier: CA399657959
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1555560217
gnomAD v2: 17-41063436-C-T
gnomAD v4: 17-42911419-C-T
COSMIC: COSM4753535
MyVariant Identifiers: chr17:g.41063436C>T (hg19) chr17:g.41063436_41063439delinsTGTT (hg19) chr17:g.42911419C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911419C>T , CM000679.2:g.42911419C>T GRCh38
NC_000017.10:g.41063436C>T , CM000679.1:g.41063436C>T GRCh37
NC_000017.9:g.38316962C>T NCBI36
NG_011808.1:g.15622C>T , LRG_147:g.15622C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1067C>T MANE Select ENSP00000253801.1:p.Ser356Leu
ENST00000253801.6:c.1067C>T ENSP00000253801.1:p.Ser356Leu
ENST00000585489.1:c.*459C>T ENSP00000466202.1:n.*459C>T
NM_000151.3:c.1067C>T NP_000142.2:p.Ser356Leu
NM_001270397.1:c.*459C>T NP_001257326.1:n.*459C>T
NM_000151.4:c.1067C>T MANE Select NP_000142.2:p.Ser356Leu
NM_001270397.2:c.*459C>T NP_001257326.1:n.*459C>T
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