Canonical Allele Identifier: CA367396852

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184767C>G (hg19) ; chr7:g.44145168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145168C>G , CM000669.2:g.44145168C>G	GRCh38
NC_000007.13:g.44184767C>G , CM000669.1:g.44184767C>G	GRCh37
NC_000007.12:g.44151292C>G	NCBI36
NG_008847.1:g.49256G>C
NG_008847.2:g.58003G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1364G>C	ENSP00000379142.4:n.*1364G>C
ENST00000616242.5:c.*486G>C	ENSP00000482149.2:n.*486G>C
ENST00000683378.1:n.592G>C
ENST00000336642.9:c.400G>C	ENSP00000338009.5:p.Ala134Pro
ENST00000345378.7:c.1369G>C	ENSP00000223366.2:p.Ala457Pro
ENST00000403799.8:c.1366G>C MANE Select	ENSP00000384247.3:p.Ala456Pro
ENST00000671824.1:c.1429G>C	ENSP00000500264.1:p.Ala477Pro
ENST00000672743.1:n.378G>C
ENST00000673284.1:c.1366G>C	ENSP00000499852.1:p.Ala456Pro
ENST00000336642.8:c.418G>C	ENSP00000338009.4:p.Ala140Pro
ENST00000345378.6:c.1369G>C	ENSP00000223366.2:p.Ala457Pro
ENST00000395796.7:c.1363G>C	ENSP00000379142.3:p.Ala455Pro
ENST00000403799.7:c.1366G>C	ENSP00000384247.3:p.Ala456Pro
ENST00000437084.1:c.1315G>C	ENSP00000402840.1:p.Ala439Pro
ENST00000459642.1:n.746G>C
ENST00000616242.4:c.1363G>C	ENSP00000482149.1:p.Ala455Pro
NM_000162.3:c.1366G>C	NP_000153.1:p.Ala456Pro
NM_033507.1:c.1369G>C	NP_277042.1:p.Ala457Pro
NM_033508.1:c.1363G>C	NP_277043.1:p.Ala455Pro
NM_000162.4:c.1366G>C	NP_000153.1:p.Ala456Pro
NM_001354800.1:c.1366G>C	NP_001341729.1:p.Ala456Pro
NM_001354801.1:c.355G>C	NP_001341730.1:p.Ala119Pro
NM_001354802.1:c.226G>C	NP_001341731.1:p.Ala76Pro
NM_001354803.1:c.400G>C	NP_001341732.1:p.Ala134Pro
NM_033507.2:c.1369G>C	NP_277042.1:p.Ala457Pro
NM_033508.2:c.1363G>C	NP_277043.1:p.Ala455Pro
XM_024446707.1:c.226G>C	XP_024302475.1:p.Ala76Pro
NM_000162.5:c.1366G>C MANE Select	NP_000153.1:p.Ala456Pro
NM_033507.3:c.1369G>C	NP_277042.1:p.Ala457Pro
NM_033508.3:c.1363G>C	NP_277043.1:p.Ala455Pro
NM_001354803.2:c.400G>C	NP_001341732.1:p.Ala134Pro