Canonical Allele Identifier: CA399729332

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153164T>C (hg19) ; chr17:g.44075796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075796T>C , CM000679.2:g.44075796T>C	GRCh38
NC_000017.10:g.42153164T>C , CM000679.1:g.42153164T>C	GRCh37
NC_000017.9:g.39508690T>C	NCBI36
NG_015818.1:g.10067T>C , LRG_182:g.10067T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*631T>C	ENSP00000466983.1:n.*631T>C
ENST00000588558.6:c.*769T>C	ENSP00000467624.1:n.*769T>C
ENST00000590253.3:c.*87T>C	ENSP00000465111.2:n.*87T>C
ENST00000593115.2:c.*815T>C	ENSP00000466821.1:n.*815T>C
ENST00000696383.1:c.449T>C	ENSP00000512593.1:p.Leu150Ser
ENST00000696384.1:c.*354T>C	ENSP00000512594.1:n.*354T>C
ENST00000696385.1:c.*512T>C	ENSP00000512595.1:n.*512T>C
ENST00000696386.1:c.*87T>C	ENSP00000512596.1:n.*87T>C
ENST00000696387.1:c.*421T>C	ENSP00000512597.1:n.*421T>C
ENST00000696388.1:c.*640T>C	ENSP00000512598.1:n.*640T>C
ENST00000696389.1:c.*825T>C	ENSP00000512599.1:n.*825T>C
ENST00000696390.1:c.584T>C	ENSP00000512600.1:p.Leu195Ser
ENST00000696391.1:c.*650T>C	ENSP00000512601.1:n.*650T>C
ENST00000696392.1:c.794T>C	ENSP00000512602.1:p.Leu265Ser
ENST00000696393.1:c.794T>C	ENSP00000512603.1:p.Leu265Ser
ENST00000696405.1:c.677+345T>C	ENSP00000512607.1:n.677+345T>C
ENST00000269097.9:c.794T>C MANE Select	ENSP00000269097.3:p.Leu265Ser
ENST00000269097.8:c.794T>C	ENSP00000269097.3:p.Leu265Ser
ENST00000585361.5:c.*631T>C	ENSP00000466983.1:n.*631T>C
ENST00000588558.5:c.*769T>C	ENSP00000467624.1:n.*769T>C
ENST00000590253.2:c.296T>C
ENST00000590639.1:n.815T>C
ENST00000591696.1:c.686T>C	ENSP00000468677.1:p.Leu229Ser
NM_138387.3:c.794T>C , LRG_182t1:c.794T>C	NP_612396.1:p.Leu265Ser
NR_028581.1:n.1224T>C
NR_028582.1:n.1089T>C
XM_011525473.1:c.449T>C	XP_011523775.1:p.Leu150Ser
XM_011525474.1:c.449T>C	XP_011523776.1:p.Leu150Ser
NM_001319945.1:c.*87T>C	NP_001306874.1:n.*87T>C
XM_011525473.3:c.449T>C	XP_011523775.1:p.Leu150Ser
XM_011525474.3:c.449T>C	XP_011523776.1:p.Leu150Ser
XM_017025335.2:c.449T>C	XP_016880824.1:p.Leu150Ser
NM_001319945.2:c.*87T>C	NP_001306874.1:n.*87T>C
NR_028581.2:n.1043T>C
NR_028582.2:n.908T>C
NM_001384165.1:c.449T>C	NP_001371094.1:p.Leu150Ser
NM_001384166.1:c.449T>C	NP_001371095.1:p.Leu150Ser
NM_001384167.1:c.449T>C	NP_001371096.1:p.Leu150Ser
NM_001384168.1:c.449T>C	NP_001371097.1:p.Leu150Ser
NM_138387.4:c.794T>C MANE Select	NP_612396.1:p.Leu265Ser