Canonical Allele Identifier: CA500617026

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 2902307
• ClinVar RCV Id: RCV003601149
• dbSNP Id: rs1567970673
• MyVariant Identifiers: chr17:g.42153058C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075690C>T , CM000679.2:g.44075690C>T	GRCh38
NC_000017.10:g.42153058C>T , CM000679.1:g.42153058C>T	GRCh37
NC_000017.9:g.39508584C>T	NCBI36
NG_015818.1:g.9961C>T , LRG_182:g.9961C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*525C>T	ENSP00000466983.1:n.*525C>T
ENST00000588558.6:c.*663C>T	ENSP00000467624.1:n.*663C>T
ENST00000590253.3:c.569C>T	ENSP00000465111.2:p.Pro190Leu
ENST00000593115.2:c.*709C>T	ENSP00000466821.1:n.*709C>T
ENST00000696383.1:c.343C>T	ENSP00000512593.1:p.Leu115=
ENST00000696384.1:c.*248C>T	ENSP00000512594.1:n.*248C>T
ENST00000696385.1:c.*406C>T	ENSP00000512595.1:n.*406C>T
ENST00000696386.1:c.371C>T	ENSP00000512596.1:p.Pro124Leu
ENST00000696387.1:c.*315C>T	ENSP00000512597.1:n.*315C>T
ENST00000696388.1:c.*534C>T	ENSP00000512598.1:n.*534C>T
ENST00000696389.1:c.*719C>T	ENSP00000512599.1:n.*719C>T
ENST00000696390.1:c.478C>T	ENSP00000512600.1:p.Leu160=
ENST00000696391.1:c.*544C>T	ENSP00000512601.1:n.*544C>T
ENST00000696392.1:c.688C>T	ENSP00000512602.1:p.Leu230=
ENST00000696393.1:c.688C>T	ENSP00000512603.1:p.Leu230=
ENST00000696405.1:c.677+239C>T	ENSP00000512607.1:n.677+239C>T
ENST00000269097.9:c.688C>T MANE Select	ENSP00000269097.3:p.Leu230=
ENST00000269097.8:c.688C>T	ENSP00000269097.3:p.Leu230=
ENST00000585361.5:c.*525C>T	ENSP00000466983.1:n.*525C>T
ENST00000588558.5:c.*663C>T	ENSP00000467624.1:n.*663C>T
ENST00000590253.2:c.190C>T
ENST00000590639.1:n.709C>T
ENST00000591696.1:c.580C>T	ENSP00000468677.1:p.Leu194=
NM_138387.3:c.688C>T , LRG_182t1:c.688C>T	NP_612396.1:p.Leu230=
NR_028581.1:n.1118C>T
NR_028582.1:n.983C>T
XM_006722179.2:c.569C>T	XP_006722242.1:p.Pro190Leu
XM_011525473.1:c.343C>T	XP_011523775.1:p.Leu115=
XM_011525474.1:c.343C>T	XP_011523776.1:p.Leu115=
NM_001319945.1:c.569C>T	NP_001306874.1:p.Pro190Leu
XM_011525473.3:c.343C>T	XP_011523775.1:p.Leu115=
XM_011525474.3:c.343C>T	XP_011523776.1:p.Leu115=
XM_017025335.2:c.343C>T	XP_016880824.1:p.Leu115=
NM_001319945.2:c.569C>T	NP_001306874.1:p.Pro190Leu
NR_028581.2:n.937C>T
NR_028582.2:n.802C>T
NM_001384165.1:c.343C>T	NP_001371094.1:p.Leu115=
NM_001384166.1:c.343C>T	NP_001371095.1:p.Leu115=
NM_001384167.1:c.343C>T	NP_001371096.1:p.Leu115=
NM_001384168.1:c.343C>T	NP_001371097.1:p.Leu115=
NM_138387.4:c.688C>T MANE Select	NP_612396.1:p.Leu230=