Canonical Allele Identifier: CA8587718

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 255350
• ClinVar RCV Id: RCV000249250 ; RCV000338206 ; RCV000675766
• dbSNP Id: rs2229611
• ExAC: 17:41063466 T / C
• gnomAD v2: 17-41063466-T-C
• gnomAD v3: 17-42911449-T-C
• gnomAD v4: 17-42911449-T-C
• MyVariant Identifiers: chr17:g.41063466T>C (hg19) ; chr17:g.42911449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911449T>C , CM000679.2:g.42911449T>C	GRCh38
NC_000017.10:g.41063466T>C , CM000679.1:g.41063466T>C	GRCh37
NC_000017.9:g.38316992T>C	NCBI36
NG_011808.1:g.15652T>C , LRG_147:g.15652T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.*23T>C MANE Select	ENSP00000253801.1:n.*23T>C
ENST00000253801.6:c.*23T>C	ENSP00000253801.1:n.*23T>C
ENST00000585489.1:c.*489T>C	ENSP00000466202.1:n.*489T>C
NM_000151.3:c.*23T>C	NP_000142.2:n.*23T>C
NM_001270397.1:c.*489T>C	NP_001257326.1:n.*489T>C
NM_000151.4:c.*23T>C MANE Select	NP_000142.2:n.*23T>C
NM_001270397.2:c.*489T>C	NP_001257326.1:n.*489T>C