Canonical Allele Identifier: CA367399757

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186083C>G (hg19) ; chr7:g.44146484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146484C>G , CM000669.2:g.44146484C>G	GRCh38
NC_000007.13:g.44186083C>G , CM000669.1:g.44186083C>G	GRCh37
NC_000007.12:g.44152608C>G	NCBI36
NG_008847.1:g.47940G>C
NG_008847.2:g.56687G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*996G>C	ENSP00000379142.4:n.*996G>C
ENST00000616242.5:c.*118G>C	ENSP00000482149.2:n.*118G>C
ENST00000683378.1:n.224G>C
ENST00000345378.7:c.1001G>C	ENSP00000223366.2:p.Arg334Pro
ENST00000403799.8:c.998G>C MANE Select	ENSP00000384247.3:p.Arg333Pro
ENST00000671824.1:c.1061G>C	ENSP00000500264.1:p.Arg354Pro
ENST00000673284.1:c.998G>C	ENSP00000499852.1:p.Arg333Pro
ENST00000345378.6:c.1001G>C	ENSP00000223366.2:p.Arg334Pro
ENST00000395796.7:c.995G>C	ENSP00000379142.3:p.Arg332Pro
ENST00000403799.7:c.998G>C	ENSP00000384247.3:p.Arg333Pro
ENST00000437084.1:c.947G>C	ENSP00000402840.1:p.Arg316Pro
ENST00000473353.1:n.296G>C
ENST00000616242.4:c.995G>C	ENSP00000482149.1:p.Arg332Pro
NM_000162.3:c.998G>C	NP_000153.1:p.Arg333Pro
NM_033507.1:c.1001G>C	NP_277042.1:p.Arg334Pro
NM_033508.1:c.995G>C	NP_277043.1:p.Arg332Pro
NM_000162.4:c.998G>C	NP_000153.1:p.Arg333Pro
NM_001354800.1:c.998G>C	NP_001341729.1:p.Arg333Pro
NM_001354801.1:c.8+135G>C	NP_001341730.1:n.8+135G>C
NM_033507.2:c.1001G>C	NP_277042.1:p.Arg334Pro
NM_033508.2:c.995G>C	NP_277043.1:p.Arg332Pro
NM_000162.5:c.998G>C MANE Select	NP_000153.1:p.Arg333Pro
NM_033507.3:c.1001G>C	NP_277042.1:p.Arg334Pro
NM_033508.3:c.995G>C	NP_277043.1:p.Arg332Pro