Canonical Allele Identifier: CA7365603

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103587302A>G , CM000676.2:g.103587302A>G	GRCh38
NC_000014.8:g.104053639A>G , CM000676.1:g.104053639A>G	GRCh37
NC_000014.7:g.103123392A>G	NCBI36
NG_041786.1:g.29346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.414A>G (COA8) MANE Select	ENSP00000386485.3:p.Glu138=
ENST00000440963.2:c.*11A>G (COA8)	ENSP00000388067.2:n.*11A>G
ENST00000458117.6:c.*11A>G (COA8)	ENSP00000408525.2:n.*11A>G
ENST00000472726.3:c.414A>G	ENSP00000439065.2:p.Glu138=
ENST00000674165.1:c.453A>G (COA8)	ENSP00000501341.1:p.Glu151=
ENST00000409074.6:c.453A>G (COA8)	ENSP00000386485.2:p.Glu151=
ENST00000440963.1:c.189A>G (COA8)	ENSP00000388067.1:p.Glu63=
ENST00000458117.5:c.373A>G (COA8)
ENST00000472726.2:c.453A>G	ENSP00000439065.1:p.Glu151=
ENST00000473127.5:c.-1A>G (COA8)	ENSP00000489380.1:n.-1A>G
ENST00000474271.1:n.158A>G (COA8)
ENST00000476323.5:c.-1A>G (COA8)	ENSP00000489047.1:n.-1A>G
ENST00000477116.5:c.-1A>G (COA8)	ENSP00000489152.1:n.-1A>G
ENST00000489117.5:c.528A>G (COA8)	ENSP00000451788.1:n.528A>G
ENST00000492189.5:c.-1A>G (COA8)	ENSP00000489557.1:n.-1A>G
ENST00000554876.5:c.367A>G (COA8)	ENSP00000489308.1:p.Asn123Asp
ENST00000555660.5:c.217A>G (COA8)
ENST00000556253.6:c.502A>G (COA8)	ENSP00000451874.2:p.Asn168Asp
ENST00000557172.5:c.-2+25318A>G (KLC1)	ENSP00000450786.1:n.-2+25318A>G
NM_001302652.1:c.453A>G (COA8)	NP_001289581.1:p.Glu151=
NM_001302653.1:c.541A>G (COA8)	NP_001289582.1:p.Asn181Asp
NM_032374.4:c.453A>G (COA8)	NP_115750.2:p.Glu151=
NR_126431.1:n.624A>G (COA8)
NR_126432.1:n.395A>G (COA8)
NM_001302652.2:c.414A>G (COA8)	NP_001289581.2:p.Glu138=
NM_001302653.2:c.502A>G (COA8)	NP_001289582.2:p.Asn168Asp
NM_001370595.2:c.414A>G (COA8) MANE Select	NP_001357524.1:p.Glu138=
NR_126431.2:n.621A>G (COA8)
NR_126432.2:n.392A>G (COA8)