Canonical Allele Identifier: CA7365543

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103574181T>G , CM000676.2:g.103574181T>G	GRCh38
NC_000014.8:g.104040518T>G , CM000676.1:g.104040518T>G	GRCh37
NC_000014.7:g.103110271T>G	NCBI36
NG_041786.1:g.16225T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370595.2:c.385+11T>G (COA8) MANE Select	NP_001357524.1:n.385+11T>G
ENST00000409074.8:c.385+11T>G (COA8) MANE Select	ENSP00000386485.3:n.385+11T>G
NM_001302652.1:c.424+11T>G (COA8)	NP_001289581.1:n.424+11T>G
NM_001302652.2:c.385+11T>G (COA8)	NP_001289581.2:n.385+11T>G
NM_001302653.1:c.424+11T>G (COA8)	NP_001289582.1:n.424+11T>G
NM_001302653.2:c.385+11T>G (COA8)	NP_001289582.2:n.385+11T>G
NM_001302654.1:c.424+11T>G (COA8)	NP_001289583.1:n.424+11T>G
NM_001302654.2:c.385+11T>G (COA8)	NP_001289583.2:n.385+11T>G
NM_032374.4:c.424+11T>G (COA8)	NP_115750.2:n.424+11T>G
NR_126431.1:n.595+11T>G (COA8)
NR_126431.2:n.592+11T>G (COA8)
NR_126432.1:n.366+2361T>G (COA8)
NR_126432.2:n.363+2361T>G (COA8)
ENST00000409074.6:c.424+11T>G (COA8)	ENSP00000386485.2:n.424+11T>G
ENST00000440963.1:c.160+11057T>G (COA8)	ENSP00000388067.1:n.160+11057T>G
ENST00000440963.2:c.123+11057T>G (COA8)	ENSP00000388067.2:n.123+11057T>G
ENST00000458117.5:c.344+2361T>G (COA8)
ENST00000458117.6:c.321+2361T>G (COA8)	ENSP00000408525.2:n.321+2361T>G
ENST00000472726.2:c.424+11T>G	ENSP00000439065.1:n.424+11T>G
ENST00000472726.3:c.385+11T>G	ENSP00000439065.2:n.385+11T>G
ENST00000473127.5:c.-30+2361T>G (COA8)	ENSP00000489380.1:n.-30+2361T>G
ENST00000474271.1:n.129+11T>G (COA8)
ENST00000476323.5:c.-30+2361T>G (COA8)	ENSP00000489047.1:n.-30+2361T>G
ENST00000477116.5:c.-30+11T>G (COA8)	ENSP00000489152.1:n.-30+11T>G
ENST00000489117.5:c.499+11T>G (COA8)	ENSP00000451788.1:n.499+11T>G
ENST00000492189.5:c.-30+10798T>G (COA8)	ENSP00000489557.1:n.-30+10798T>G
ENST00000495778.1:c.310+11T>G (COA8)	ENSP00000451703.1:n.310+11T>G
ENST00000497901.5:n.351+11T>G (COA8)
ENST00000554625.5:n.416T>G (COA8)
ENST00000554876.5:c.217+11T>G (COA8)	ENSP00000489308.1:n.217+11T>G
ENST00000555660.5:c.67+2361T>G (COA8)
ENST00000556253.6:c.385+11T>G (COA8)	ENSP00000451874.2:n.385+11T>G
ENST00000557172.5:c.-2+12197T>G (KLC1)	ENSP00000450786.1:n.-2+12197T>G
ENST00000674165.1:c.424+11T>G (COA8)	ENSP00000501341.1:n.424+11T>G