Canonical Allele Identifier: CA367397252

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184864G>T (hg19) ; chr7:g.44145265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145265G>T , CM000669.2:g.44145265G>T	GRCh38
NC_000007.13:g.44184864G>T , CM000669.1:g.44184864G>T	GRCh37
NC_000007.12:g.44151389G>T	NCBI36
NG_008847.1:g.49159C>A
NG_008847.2:g.57906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1267C>A	ENSP00000379142.4:n.*1267C>A
ENST00000616242.5:c.*389C>A	ENSP00000482149.2:n.*389C>A
ENST00000683378.1:n.495C>A
ENST00000336642.9:c.303C>A	ENSP00000338009.5:p.Phe101Leu
ENST00000345378.7:c.1272C>A	ENSP00000223366.2:p.Phe424Leu
ENST00000403799.8:c.1269C>A MANE Select	ENSP00000384247.3:p.Phe423Leu
ENST00000671824.1:c.1332C>A	ENSP00000500264.1:p.Phe444Leu
ENST00000672743.1:n.281C>A
ENST00000673284.1:c.1269C>A	ENSP00000499852.1:p.Phe423Leu
ENST00000336642.8:c.321C>A	ENSP00000338009.4:p.Phe107Leu
ENST00000345378.6:c.1272C>A	ENSP00000223366.2:p.Phe424Leu
ENST00000395796.7:c.1266C>A	ENSP00000379142.3:p.Phe422Leu
ENST00000403799.7:c.1269C>A	ENSP00000384247.3:p.Phe423Leu
ENST00000437084.1:c.1218C>A	ENSP00000402840.1:p.Phe406Leu
ENST00000459642.1:n.649C>A
ENST00000616242.4:c.1266C>A	ENSP00000482149.1:p.Phe422Leu
NM_000162.3:c.1269C>A	NP_000153.1:p.Phe423Leu
NM_033507.1:c.1272C>A	NP_277042.1:p.Phe424Leu
NM_033508.1:c.1266C>A	NP_277043.1:p.Phe422Leu
NM_000162.4:c.1269C>A	NP_000153.1:p.Phe423Leu
NM_001354800.1:c.1269C>A	NP_001341729.1:p.Phe423Leu
NM_001354801.1:c.258C>A	NP_001341730.1:p.Phe86Leu
NM_001354802.1:c.129C>A	NP_001341731.1:p.Phe43Leu
NM_001354803.1:c.303C>A	NP_001341732.1:p.Phe101Leu
NM_033507.2:c.1272C>A	NP_277042.1:p.Phe424Leu
NM_033508.2:c.1266C>A	NP_277043.1:p.Phe422Leu
XM_024446707.1:c.129C>A	XP_024302475.1:p.Phe43Leu
NM_000162.5:c.1269C>A MANE Select	NP_000153.1:p.Phe423Leu
NM_033507.3:c.1272C>A	NP_277042.1:p.Phe424Leu
NM_033508.3:c.1266C>A	NP_277043.1:p.Phe422Leu
NM_001354803.2:c.303C>A	NP_001341732.1:p.Phe101Leu