Canonical Allele Identifier: CA391111271

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103563050C>G , CM000676.2:g.103563050C>G	GRCh38
NC_000014.8:g.104029387C>G , CM000676.1:g.104029387C>G	GRCh37
NC_000014.7:g.103099140C>G	NCBI36
NG_041786.1:g.5094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.49C>G (COA8) MANE Select	ENSP00000386485.3:p.Arg17Gly
ENST00000440963.2:c.49C>G (COA8)	ENSP00000388067.2:p.Arg17Gly
ENST00000458117.6:c.49C>G (COA8)	ENSP00000408525.2:p.Arg17Gly
ENST00000472726.3:c.49C>G	ENSP00000439065.2:p.Arg17Gly
ENST00000674165.1:c.88C>G (COA8)	ENSP00000501341.1:p.Arg30Gly
ENST00000409074.6:c.88C>G (COA8)	ENSP00000386485.2:p.Arg30Gly
ENST00000440963.1:c.86C>G (COA8)	ENSP00000388067.1:p.Pro29Arg
ENST00000458117.5:c.72C>G (COA8)
ENST00000472726.2:c.88C>G	ENSP00000439065.1:p.Arg30Gly
ENST00000554625.5:n.69C>G (COA8)
ENST00000556253.6:c.49C>G (COA8)	ENSP00000451874.2:p.Arg17Gly
ENST00000557172.5:c.-2+1066C>G (KLC1)	ENSP00000450786.1:n.-2+1066C>G
NM_001302652.1:c.88C>G (COA8)	NP_001289581.1:p.Arg30Gly
NM_001302653.1:c.88C>G (COA8)	NP_001289582.1:p.Arg30Gly
NM_001302654.1:c.88C>G (COA8)	NP_001289583.1:p.Arg30Gly
NM_032374.4:c.88C>G (COA8)	NP_115750.2:p.Arg30Gly
NR_126431.1:n.94C>G (COA8)
NR_126432.1:n.94C>G (COA8)
NM_001302652.2:c.49C>G (COA8)	NP_001289581.2:p.Arg17Gly
NM_001302653.2:c.49C>G (COA8)	NP_001289582.2:p.Arg17Gly
NM_001302654.2:c.49C>G (COA8)	NP_001289583.2:p.Arg17Gly
NM_001370595.2:c.49C>G (COA8) MANE Select	NP_001357524.1:p.Arg17Gly
NR_126431.2:n.91C>G (COA8)
NR_126432.2:n.91C>G (COA8)