Canonical Allele Identifier: CA367399706

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186069C>G (hg19) ; chr7:g.44146470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146470C>G , CM000669.2:g.44146470C>G	GRCh38
NC_000007.13:g.44186069C>G , CM000669.1:g.44186069C>G	GRCh37
NC_000007.12:g.44152594C>G	NCBI36
NG_008847.1:g.47954G>C
NG_008847.2:g.56701G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1010G>C	ENSP00000379142.4:n.*1010G>C
ENST00000616242.5:c.*132G>C	ENSP00000482149.2:n.*132G>C
ENST00000683378.1:n.238G>C
ENST00000345378.7:c.1015G>C	ENSP00000223366.2:p.Val339Leu
ENST00000403799.8:c.1012G>C MANE Select	ENSP00000384247.3:p.Val338Leu
ENST00000671824.1:c.1075G>C	ENSP00000500264.1:p.Val359Leu
ENST00000673284.1:c.1012G>C	ENSP00000499852.1:p.Val338Leu
ENST00000345378.6:c.1015G>C	ENSP00000223366.2:p.Val339Leu
ENST00000395796.7:c.1009G>C	ENSP00000379142.3:p.Val337Leu
ENST00000403799.7:c.1012G>C	ENSP00000384247.3:p.Val338Leu
ENST00000437084.1:c.961G>C	ENSP00000402840.1:p.Val321Leu
ENST00000473353.1:n.310G>C
ENST00000616242.4:c.1009G>C	ENSP00000482149.1:p.Val337Leu
NM_000162.3:c.1012G>C	NP_000153.1:p.Val338Leu
NM_033507.1:c.1015G>C	NP_277042.1:p.Val339Leu
NM_033508.1:c.1009G>C	NP_277043.1:p.Val337Leu
NM_000162.4:c.1012G>C	NP_000153.1:p.Val338Leu
NM_001354800.1:c.1012G>C	NP_001341729.1:p.Val338Leu
NM_001354801.1:c.8+149G>C	NP_001341730.1:n.8+149G>C
NM_033507.2:c.1015G>C	NP_277042.1:p.Val339Leu
NM_033508.2:c.1009G>C	NP_277043.1:p.Val337Leu
NM_000162.5:c.1012G>C MANE Select	NP_000153.1:p.Val338Leu
NM_033507.3:c.1015G>C	NP_277042.1:p.Val339Leu
NM_033508.3:c.1009G>C	NP_277043.1:p.Val337Leu