Canonical Allele Identifier: CA399729251

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153121C>G (hg19) ; chr17:g.44075753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075753C>G , CM000679.2:g.44075753C>G	GRCh38
NC_000017.10:g.42153121C>G , CM000679.1:g.42153121C>G	GRCh37
NC_000017.9:g.39508647C>G	NCBI36
NG_015818.1:g.10024C>G , LRG_182:g.10024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*588C>G	ENSP00000466983.1:n.*588C>G
ENST00000588558.6:c.*726C>G	ENSP00000467624.1:n.*726C>G
ENST00000590253.3:c.*44C>G	ENSP00000465111.2:n.*44C>G
ENST00000593115.2:c.*772C>G	ENSP00000466821.1:n.*772C>G
ENST00000696383.1:c.406C>G	ENSP00000512593.1:p.Leu136Val
ENST00000696384.1:c.*311C>G	ENSP00000512594.1:n.*311C>G
ENST00000696385.1:c.*469C>G	ENSP00000512595.1:n.*469C>G
ENST00000696386.1:c.*44C>G	ENSP00000512596.1:n.*44C>G
ENST00000696387.1:c.*378C>G	ENSP00000512597.1:n.*378C>G
ENST00000696388.1:c.*597C>G	ENSP00000512598.1:n.*597C>G
ENST00000696389.1:c.*782C>G	ENSP00000512599.1:n.*782C>G
ENST00000696390.1:c.541C>G	ENSP00000512600.1:p.Leu181Val
ENST00000696391.1:c.*607C>G	ENSP00000512601.1:n.*607C>G
ENST00000696392.1:c.751C>G	ENSP00000512602.1:p.Leu251Val
ENST00000696393.1:c.751C>G	ENSP00000512603.1:p.Leu251Val
ENST00000696405.1:c.677+302C>G	ENSP00000512607.1:n.677+302C>G
ENST00000269097.9:c.751C>G MANE Select	ENSP00000269097.3:p.Leu251Val
ENST00000269097.8:c.751C>G	ENSP00000269097.3:p.Leu251Val
ENST00000585361.5:c.*588C>G	ENSP00000466983.1:n.*588C>G
ENST00000588558.5:c.*726C>G	ENSP00000467624.1:n.*726C>G
ENST00000590253.2:c.253C>G
ENST00000590639.1:n.772C>G
ENST00000591696.1:c.643C>G	ENSP00000468677.1:p.Leu215Val
NM_138387.3:c.751C>G , LRG_182t1:c.751C>G	NP_612396.1:p.Leu251Val
NR_028581.1:n.1181C>G
NR_028582.1:n.1046C>G
XM_011525473.1:c.406C>G	XP_011523775.1:p.Leu136Val
XM_011525474.1:c.406C>G	XP_011523776.1:p.Leu136Val
NM_001319945.1:c.*44C>G	NP_001306874.1:n.*44C>G
XM_011525473.3:c.406C>G	XP_011523775.1:p.Leu136Val
XM_011525474.3:c.406C>G	XP_011523776.1:p.Leu136Val
XM_017025335.2:c.406C>G	XP_016880824.1:p.Leu136Val
NM_001319945.2:c.*44C>G	NP_001306874.1:n.*44C>G
NR_028581.2:n.1000C>G
NR_028582.2:n.865C>G
NM_001384165.1:c.406C>G	NP_001371094.1:p.Leu136Val
NM_001384166.1:c.406C>G	NP_001371095.1:p.Leu136Val
NM_001384167.1:c.406C>G	NP_001371096.1:p.Leu136Val
NM_001384168.1:c.406C>G	NP_001371097.1:p.Leu136Val
NM_138387.4:c.751C>G MANE Select	NP_612396.1:p.Leu251Val