Canonical Allele Identifier: CA7366154

Gene: KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103679543G>C , CM000676.2:g.103679543G>C	GRCh38
NC_000014.8:g.104145880G>C , CM000676.1:g.104145880G>C	GRCh37
NC_000014.7:g.103215633G>C	NCBI36
NG_012307.1:g.55356G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001394837.1:c.1648G>C MANE Select	NP_001381766.1:p.Gly550Arg
ENST00000334553.11:c.1648G>C MANE Select	ENSP00000334523.6:p.Gly550Arg
NM_001130107.1:c.1648G>C	NP_001123579.1:p.Gly550Arg
NM_001130107.2:c.1648G>C	NP_001123579.1:p.Gly550Arg
NM_001394832.1:c.1723G>C	NP_001381761.1:p.Gly575Arg
NM_001394833.1:c.1723G>C	NP_001381762.1:p.Gly575Arg
NM_001394834.1:c.1698+25G>C	NP_001381763.1:n.1698+25G>C
NM_001394835.1:c.1698+25G>C	NP_001381764.1:n.1698+25G>C
NM_001394836.1:c.1723G>C	NP_001381765.1:p.Gly575Arg
NM_001394838.1:c.1648G>C	NP_001381767.1:p.Gly550Arg
NM_001394839.1:c.1698+25G>C	NP_001381768.1:n.1698+25G>C
NM_001394840.1:c.1623+25G>C	NP_001381769.1:n.1623+25G>C
NM_001394841.1:c.1623+25G>C	NP_001381770.1:n.1623+25G>C
NM_001394842.1:c.1645G>C	NP_001381771.1:p.Gly549Arg
NM_001394843.1:c.1642G>C	NP_001381772.1:p.Gly548Arg
NM_001394844.1:c.1623+25G>C	NP_001381773.1:n.1623+25G>C
NM_001394845.1:c.1648G>C	NP_001381774.1:p.Gly550Arg
NM_001394846.1:c.1723G>C	NP_001381775.1:p.Gly575Arg
NM_001394847.1:c.1623+25G>C	NP_001381776.1:n.1623+25G>C
NM_001394848.1:c.1698+25G>C	NP_001381777.1:n.1698+25G>C
NM_001394849.1:c.1723G>C	NP_001381778.1:p.Gly575Arg
NM_001394850.1:c.1698+25G>C	NP_001381779.1:n.1698+25G>C
NM_001394851.1:c.1642G>C	NP_001381780.1:p.Gly548Arg
NM_001394852.1:c.1623+25G>C	NP_001381781.1:n.1623+25G>C
NM_001394853.1:c.1623+25G>C	NP_001381782.1:n.1623+25G>C
NM_001394854.1:c.1648G>C	NP_001381783.1:p.Gly550Arg
NM_001394855.1:c.1623+25G>C	NP_001381784.1:n.1623+25G>C
NM_001394856.1:c.1698+25G>C	NP_001381785.1:n.1698+25G>C
NM_001394857.1:c.1617+25G>C	NP_001381786.1:n.1617+25G>C
NM_001394858.1:c.1623+25G>C	NP_001381787.1:n.1623+25G>C
NM_001394859.1:c.1623+25G>C	NP_001381788.1:n.1623+25G>C
NM_001394860.1:c.1648G>C	NP_001381789.1:p.Gly550Arg
NM_005552.4:c.1648G>C	NP_005543.2:p.Gly550Arg
NM_005552.5:c.1648G>C	NP_005543.2:p.Gly550Arg
NM_182923.3:c.1648G>C	NP_891553.2:p.Gly550Arg
NM_182923.4:c.1648G>C	NP_891553.2:p.Gly550Arg
ENST00000246489.11:c.1648G>C	ENSP00000246489.7:p.Gly550Arg
ENST00000334553.10:c.1648G>C	ENSP00000334523.6:p.Gly550Arg
ENST00000347839.10:c.1623+25G>C	ENSP00000334618.7:n.1623+25G>C
ENST00000348520.10:c.1648G>C	ENSP00000341154.6:p.Gly550Arg
ENST00000380038.7:c.1698+25G>C	ENSP00000369377.3:n.1698+25G>C
ENST00000389744.8:c.1648G>C	ENSP00000374394.3:p.Gly550Arg
ENST00000445352.8:c.1617+25G>C	ENSP00000412693.4:n.1617+25G>C
ENST00000452929.6:c.1648G>C	ENSP00000414982.2:p.Gly550Arg
ENST00000472726.2:c.2164G>C	ENSP00000439065.1:p.Gly722Arg
ENST00000472726.3:c.2125G>C	ENSP00000439065.2:p.Gly709Arg
ENST00000535194.2:c.146G>C
ENST00000537046.6:c.539G>C
ENST00000553286.5:c.1648G>C	ENSP00000452487.1:p.Gly550Arg
ENST00000553325.5:c.362+25G>C
ENST00000553436.5:c.375G>C
ENST00000554228.5:c.1648G>C	ENSP00000450616.1:p.Gly550Arg
ENST00000554280.5:c.1623+25G>C	ENSP00000451242.1:n.1623+25G>C
ENST00000555836.5:c.1623+25G>C	ENSP00000452481.1:n.1623+25G>C
ENST00000555856.1:c.419+25G>C
ENST00000557450.5:c.1623+25G>C	ENSP00000450648.1:n.1623+25G>C
ENST00000557575.5:c.1648G>C	ENSP00000450617.1:p.Gly550Arg
ENST00000634686.1:c.1623+25G>C	ENSP00000488938.1:n.1623+25G>C