Canonical Allele Identifier: CA290850654

Gene: G6PC3

Linked Data

• dbSNP Id: rs138666029
• COSMIC: COSM107117
• MyVariant Identifiers: chr17:g.42152705C>T (hg19) ; chr17:g.44075337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075337C>T , CM000679.2:g.44075337C>T	GRCh38
NC_000017.10:g.42152705C>T , CM000679.1:g.42152705C>T	GRCh37
NC_000017.9:g.39508231C>T	NCBI36
NG_015818.1:g.9608C>T , LRG_182:g.9608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*400C>T	ENSP00000466983.1:n.*400C>T
ENST00000588558.6:c.*538C>T	ENSP00000467624.1:n.*538C>T
ENST00000590253.3:c.444C>T	ENSP00000465111.2:p.Ser148=
ENST00000593115.2:c.*584C>T	ENSP00000466821.1:n.*584C>T
ENST00000696383.1:c.218C>T	ENSP00000512593.1:p.Pro73Leu
ENST00000696384.1:c.*123C>T	ENSP00000512594.1:n.*123C>T
ENST00000696385.1:c.*281C>T	ENSP00000512595.1:n.*281C>T
ENST00000696386.1:c.246C>T	ENSP00000512596.1:p.Ser82=
ENST00000696387.1:c.*190C>T	ENSP00000512597.1:n.*190C>T
ENST00000696388.1:c.*409C>T	ENSP00000512598.1:n.*409C>T
ENST00000696389.1:c.*594C>T	ENSP00000512599.1:n.*594C>T
ENST00000696390.1:c.353C>T	ENSP00000512600.1:p.Pro118Leu
ENST00000696391.1:c.*419C>T	ENSP00000512601.1:n.*419C>T
ENST00000696392.1:c.563C>T	ENSP00000512602.1:p.Pro188Leu
ENST00000696393.1:c.563C>T	ENSP00000512603.1:p.Pro188Leu
ENST00000696405.1:c.563C>T	ENSP00000512607.1:p.Pro188Leu
ENST00000269097.9:c.563C>T MANE Select	ENSP00000269097.3:p.Pro188Leu
ENST00000269097.8:c.563C>T	ENSP00000269097.3:p.Pro188Leu
ENST00000585361.5:c.*400C>T	ENSP00000466983.1:n.*400C>T
ENST00000588558.5:c.*538C>T	ENSP00000467624.1:n.*538C>T
ENST00000590253.2:c.65C>T
ENST00000590639.1:n.584C>T
ENST00000591696.1:c.455C>T	ENSP00000468677.1:p.Pro152Leu
NM_138387.3:c.563C>T , LRG_182t1:c.563C>T	NP_612396.1:p.Pro188Leu
NR_028581.1:n.993C>T
NR_028582.1:n.858C>T
XM_006722179.2:c.444C>T	XP_006722242.1:p.Ser148=
XM_011525473.1:c.218C>T	XP_011523775.1:p.Pro73Leu
XM_011525474.1:c.218C>T	XP_011523776.1:p.Pro73Leu
NM_001319945.1:c.444C>T	NP_001306874.1:p.Ser148=
XM_011525473.3:c.218C>T	XP_011523775.1:p.Pro73Leu
XM_011525474.3:c.218C>T	XP_011523776.1:p.Pro73Leu
XM_017025335.2:c.218C>T	XP_016880824.1:p.Pro73Leu
NM_001319945.2:c.444C>T	NP_001306874.1:p.Ser148=
NR_028581.2:n.812C>T
NR_028582.2:n.677C>T
NM_001384165.1:c.218C>T	NP_001371094.1:p.Pro73Leu
NM_001384166.1:c.218C>T	NP_001371095.1:p.Pro73Leu
NM_001384167.1:c.218C>T	NP_001371096.1:p.Pro73Leu
NM_001384168.1:c.218C>T	NP_001371097.1:p.Pro73Leu
NM_138387.4:c.563C>T MANE Select	NP_612396.1:p.Pro188Leu