Canonical Allele Identifier: CA399657973
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41063441T>G (hg19) chr17:g.42911424T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911424T>G , CM000679.2:g.42911424T>G GRCh38
NC_000017.10:g.41063441T>G , CM000679.1:g.41063441T>G GRCh37
NC_000017.9:g.38316967T>G NCBI36
NG_011808.1:g.15627T>G , LRG_147:g.15627T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1072T>G MANE Select ENSP00000253801.1:p.Ter358Glu
ENST00000253801.6:c.1072T>G ENSP00000253801.1:p.Ter358Glu
ENST00000585489.1:c.*464T>G ENSP00000466202.1:n.*464T>G
NM_000151.3:c.1072T>G NP_000142.2:p.Ter358Glu
NM_001270397.1:c.*464T>G NP_001257326.1:n.*464T>G
NM_000151.4:c.1072T>G MANE Select NP_000142.2:p.Ter358Glu
NM_001270397.2:c.*464T>G NP_001257326.1:n.*464T>G
Search 100 bp 5'
Search 100 bp 3'