Canonical Allele Identifier: CA367400043
Community Standard Title: NM_000162.5(GCK):c.911T>C (p.Leu304Pro)
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146571A>G , CM000669.2:g.44146571A>G GRCh38
NC_000007.13:g.44186170A>G , CM000669.1:g.44186170A>G GRCh37
NC_000007.12:g.44152695A>G NCBI36
NG_008847.1:g.47853T>C
NG_008847.2:g.56600T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.911T>C MANE Select NP_000153.1:p.Leu304Pro
ENST00000403799.8:c.911T>C MANE Select ENSP00000384247.3:p.Leu304Pro
NM_000162.3:c.911T>C NP_000153.1:p.Leu304Pro
NM_000162.4:c.911T>C NP_000153.1:p.Leu304Pro
NM_001354800.1:c.911T>C NP_001341729.1:p.Leu304Pro
NM_001354801.1:c.8+48T>C NP_001341730.1:n.8+48T>C
NM_033507.1:c.914T>C NP_277042.1:p.Leu305Pro
NM_033507.2:c.914T>C NP_277042.1:p.Leu305Pro
NM_033507.3:c.914T>C NP_277042.1:p.Leu305Pro
NM_033508.1:c.908T>C NP_277043.1:p.Leu303Pro
NM_033508.2:c.908T>C NP_277043.1:p.Leu303Pro
NM_033508.3:c.908T>C NP_277043.1:p.Leu303Pro
ENST00000345378.6:c.914T>C ENSP00000223366.2:p.Leu305Pro
ENST00000345378.7:c.914T>C ENSP00000223366.2:p.Leu305Pro
ENST00000395796.7:c.908T>C ENSP00000379142.3:p.Leu303Pro
ENST00000395796.8:c.*909T>C ENSP00000379142.4:n.*909T>C
ENST00000403799.7:c.911T>C ENSP00000384247.3:p.Leu304Pro
ENST00000437084.1:c.860T>C ENSP00000402840.1:p.Leu287Pro
ENST00000473353.1:n.209T>C
ENST00000616242.4:c.908T>C ENSP00000482149.1:p.Leu303Pro
ENST00000616242.5:c.*31T>C ENSP00000482149.2:n.*31T>C
ENST00000671824.1:c.974T>C ENSP00000500264.1:p.Leu325Pro
ENST00000673284.1:c.911T>C ENSP00000499852.1:p.Leu304Pro
ENST00000683378.1:n.137T>C