Canonical Allele Identifier: CA399656140

Gene: G6PC1

Linked Data

• dbSNP Id: rs1355488158
• gnomAD v2: 17-41063127-T-C
• gnomAD v4: 17-42911110-T-C
• MyVariant Identifiers: chr17:g.41063127T>C (hg19) ; chr17:g.42911110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911110T>C , CM000679.2:g.42911110T>C	GRCh38
NC_000017.10:g.41063127T>C , CM000679.1:g.41063127T>C	GRCh37
NC_000017.9:g.38316653T>C	NCBI36
NG_011808.1:g.15313T>C , LRG_147:g.15313T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.758T>C MANE Select	ENSP00000253801.1:p.Ile253Thr
ENST00000253801.6:c.758T>C	ENSP00000253801.1:p.Ile253Thr
ENST00000585489.1:c.*150T>C	ENSP00000466202.1:n.*150T>C
ENST00000592383.5:c.*150T>C	ENSP00000465958.1:n.*150T>C
NM_000151.3:c.758T>C	NP_000142.2:p.Ile253Thr
NM_001270397.1:c.*150T>C	NP_001257326.1:n.*150T>C
NM_000151.4:c.758T>C MANE Select	NP_000142.2:p.Ile253Thr
NM_001270397.2:c.*150T>C	NP_001257326.1:n.*150T>C