Canonical Allele Identifier: CA267202889

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103589863G>A , CM000676.2:g.103589863G>A	GRCh38
NC_000014.8:g.104056200G>A , CM000676.1:g.104056200G>A	GRCh37
NC_000014.7:g.103125953G>A	NCBI36
NG_041786.1:g.31907G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370595.2:c.477-318G>A (COA8) MANE Select	NP_001357524.1:n.477-318G>A
ENST00000409074.8:c.477-318G>A (COA8) MANE Select	ENSP00000386485.3:n.477-318G>A
NM_001302652.1:c.516-320G>A (COA8)	NP_001289581.1:n.516-320G>A
NM_001302652.2:c.477-320G>A (COA8)	NP_001289581.2:n.477-320G>A
NM_001302653.1:c.*31-318G>A (COA8)	NP_001289582.1:n.*31-318G>A
NM_001302653.2:c.*31-318G>A (COA8)	NP_001289582.2:n.*31-318G>A
NM_032374.4:c.516-318G>A (COA8)	NP_115750.2:n.516-318G>A
NR_126431.1:n.687-318G>A (COA8)
NR_126431.2:n.684-318G>A (COA8)
NR_126432.1:n.458-318G>A (COA8)
NR_126432.2:n.455-318G>A (COA8)
ENST00000409074.6:c.516-318G>A (COA8)	ENSP00000386485.2:n.516-318G>A
ENST00000440963.1:c.252-318G>A (COA8)	ENSP00000388067.1:n.252-318G>A
ENST00000440963.2:c.*74-318G>A (COA8)	ENSP00000388067.2:n.*74-318G>A
ENST00000458117.5:c.436-318G>A (COA8)
ENST00000458117.6:c.*74-318G>A (COA8)	ENSP00000408525.2:n.*74-318G>A
ENST00000472726.2:c.515+2499G>A	ENSP00000439065.1:n.515+2499G>A
ENST00000472726.3:c.476+2499G>A	ENSP00000439065.2:n.476+2499G>A
ENST00000473127.5:c.63-318G>A (COA8)	ENSP00000489380.1:n.63-318G>A
ENST00000474271.1:n.220+2499G>A (COA8)
ENST00000476323.5:c.113-318G>A (COA8)	ENSP00000489047.1:n.113-318G>A
ENST00000477116.5:c.63-318G>A (COA8)	ENSP00000489152.1:n.63-318G>A
ENST00000489117.5:c.591-318G>A (COA8)	ENSP00000451788.1:n.591-318G>A
ENST00000492189.5:c.63-318G>A (COA8)	ENSP00000489557.1:n.63-318G>A
ENST00000555660.5:c.280-318G>A (COA8)
ENST00000556253.6:c.*31-318G>A (COA8)	ENSP00000451874.2:n.*31-318G>A
ENST00000557079.1:n.283-318G>A (COA8)
ENST00000557172.5:c.-2+27879G>A (KLC1)	ENSP00000450786.1:n.-2+27879G>A
ENST00000674165.1:c.516-318G>A (COA8)	ENSP00000501341.1:n.516-318G>A