Canonical Allele Identifier: CA399729123

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153064T>C (hg19) ; chr17:g.44075696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075696T>C , CM000679.2:g.44075696T>C	GRCh38
NC_000017.10:g.42153064T>C , CM000679.1:g.42153064T>C	GRCh37
NC_000017.9:g.39508590T>C	NCBI36
NG_015818.1:g.9967T>C , LRG_182:g.9967T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*531T>C	ENSP00000466983.1:n.*531T>C
ENST00000588558.6:c.*669T>C	ENSP00000467624.1:n.*669T>C
ENST00000590253.3:c.575T>C	ENSP00000465111.2:p.Leu192Pro
ENST00000593115.2:c.*715T>C	ENSP00000466821.1:n.*715T>C
ENST00000696383.1:c.349T>C	ENSP00000512593.1:p.Phe117Leu
ENST00000696384.1:c.*254T>C	ENSP00000512594.1:n.*254T>C
ENST00000696385.1:c.*412T>C	ENSP00000512595.1:n.*412T>C
ENST00000696386.1:c.377T>C	ENSP00000512596.1:p.Leu126Pro
ENST00000696387.1:c.*321T>C	ENSP00000512597.1:n.*321T>C
ENST00000696388.1:c.*540T>C	ENSP00000512598.1:n.*540T>C
ENST00000696389.1:c.*725T>C	ENSP00000512599.1:n.*725T>C
ENST00000696390.1:c.484T>C	ENSP00000512600.1:p.Phe162Leu
ENST00000696391.1:c.*550T>C	ENSP00000512601.1:n.*550T>C
ENST00000696392.1:c.694T>C	ENSP00000512602.1:p.Phe232Leu
ENST00000696393.1:c.694T>C	ENSP00000512603.1:p.Phe232Leu
ENST00000696405.1:c.677+245T>C	ENSP00000512607.1:n.677+245T>C
ENST00000269097.9:c.694T>C MANE Select	ENSP00000269097.3:p.Phe232Leu
ENST00000269097.8:c.694T>C	ENSP00000269097.3:p.Phe232Leu
ENST00000585361.5:c.*531T>C	ENSP00000466983.1:n.*531T>C
ENST00000588558.5:c.*669T>C	ENSP00000467624.1:n.*669T>C
ENST00000590253.2:c.196T>C
ENST00000590639.1:n.715T>C
ENST00000591696.1:c.586T>C	ENSP00000468677.1:p.Phe196Leu
NM_138387.3:c.694T>C , LRG_182t1:c.694T>C	NP_612396.1:p.Phe232Leu
NR_028581.1:n.1124T>C
NR_028582.1:n.989T>C
XM_006722179.2:c.575T>C	XP_006722242.1:p.Leu192Pro
XM_011525473.1:c.349T>C	XP_011523775.1:p.Phe117Leu
XM_011525474.1:c.349T>C	XP_011523776.1:p.Phe117Leu
NM_001319945.1:c.575T>C	NP_001306874.1:p.Leu192Pro
XM_011525473.3:c.349T>C	XP_011523775.1:p.Phe117Leu
XM_011525474.3:c.349T>C	XP_011523776.1:p.Phe117Leu
XM_017025335.2:c.349T>C	XP_016880824.1:p.Phe117Leu
NM_001319945.2:c.575T>C	NP_001306874.1:p.Leu192Pro
NR_028581.2:n.943T>C
NR_028582.2:n.808T>C
NM_001384165.1:c.349T>C	NP_001371094.1:p.Phe117Leu
NM_001384166.1:c.349T>C	NP_001371095.1:p.Phe117Leu
NM_001384167.1:c.349T>C	NP_001371096.1:p.Phe117Leu
NM_001384168.1:c.349T>C	NP_001371097.1:p.Phe117Leu
NM_138387.4:c.694T>C MANE Select	NP_612396.1:p.Phe232Leu