Canonical Allele Identifier: CA16041843
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371101
ClinVar RCV Id: RCV000411603
dbSNP Id: rs1057517008

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901037A>C , CM000679.2:g.42901037A>C GRCh38
NC_000017.10:g.41053054A>C , CM000679.1:g.41053054A>C GRCh37
NC_000017.9:g.38306580A>C NCBI36
NG_011808.1:g.5240A>C , LRG_147:g.5240A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.161A>C MANE Select ENSP00000253801.1:p.Gln54Pro
ENST00000253801.6:c.161A>C ENSP00000253801.1:p.Gln54Pro
ENST00000585489.1:c.161A>C ENSP00000466202.1:p.Gln54Pro
ENST00000588481.1:n.226A>C
ENST00000592383.5:c.161A>C ENSP00000465958.1:p.Gln54Pro
NM_000151.3:c.161A>C NP_000142.2:p.Gln54Pro
NM_001270397.1:c.161A>C NP_001257326.1:p.Gln54Pro
NM_000151.4:c.161A>C MANE Select NP_000142.2:p.Gln54Pro
NM_001270397.2:c.161A>C NP_001257326.1:p.Gln54Pro