Canonical Allele Identifier: CA367396798

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184756C>A (hg19) ; chr7:g.44145157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145157C>A , CM000669.2:g.44145157C>A	GRCh38
NC_000007.13:g.44184756C>A , CM000669.1:g.44184756C>A	GRCh37
NC_000007.12:g.44151281C>A	NCBI36
NG_008847.1:g.49267G>T
NG_008847.2:g.58014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1375G>T	ENSP00000379142.4:n.*1375G>T
ENST00000616242.5:c.*497G>T	ENSP00000482149.2:n.*497G>T
ENST00000683378.1:n.603G>T
ENST00000336642.9:c.411G>T	ENSP00000338009.5:p.Lys137Asn
ENST00000345378.7:c.1380G>T	ENSP00000223366.2:p.Lys460Asn
ENST00000403799.8:c.1377G>T MANE Select	ENSP00000384247.3:p.Lys459Asn
ENST00000671824.1:c.1440G>T	ENSP00000500264.1:p.Lys480Asn
ENST00000672743.1:n.381+8G>T
ENST00000673284.1:c.1369+8G>T	ENSP00000499852.1:n.1369+8G>T
ENST00000336642.8:c.429G>T	ENSP00000338009.4:p.Lys143Asn
ENST00000345378.6:c.1380G>T	ENSP00000223366.2:p.Lys460Asn
ENST00000395796.7:c.1374G>T	ENSP00000379142.3:p.Lys458Asn
ENST00000403799.7:c.1377G>T	ENSP00000384247.3:p.Lys459Asn
ENST00000437084.1:c.1326G>T	ENSP00000402840.1:p.Lys442Asn
ENST00000459642.1:n.757G>T
ENST00000616242.4:c.1374G>T	ENSP00000482149.1:p.Lys458Asn
NM_000162.3:c.1377G>T	NP_000153.1:p.Lys459Asn
NM_033507.1:c.1380G>T	NP_277042.1:p.Lys460Asn
NM_033508.1:c.1374G>T	NP_277043.1:p.Lys458Asn
NM_000162.4:c.1377G>T	NP_000153.1:p.Lys459Asn
NM_001354800.1:c.1369+8G>T	NP_001341729.1:n.1369+8G>T
NM_001354801.1:c.366G>T	NP_001341730.1:p.Lys122Asn
NM_001354802.1:c.229+8G>T	NP_001341731.1:n.229+8G>T
NM_001354803.1:c.411G>T	NP_001341732.1:p.Lys137Asn
NM_033507.2:c.1380G>T	NP_277042.1:p.Lys460Asn
NM_033508.2:c.1374G>T	NP_277043.1:p.Lys458Asn
XM_024446707.1:c.237G>T	XP_024302475.1:p.Lys79Asn
NM_000162.5:c.1377G>T MANE Select	NP_000153.1:p.Lys459Asn
NM_033507.3:c.1380G>T	NP_277042.1:p.Lys460Asn
NM_033508.3:c.1374G>T	NP_277043.1:p.Lys458Asn
NM_001354803.2:c.411G>T	NP_001341732.1:p.Lys137Asn