Canonical Allele Identifier: CA488032876
Community Standard Title: NM_001370595.2(COA8):c.216A>C (p.Ile72=)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103571715A>C , CM000676.2:g.103571715A>C GRCh38
NC_000014.8:g.104038052A>C , CM000676.1:g.104038052A>C GRCh37
NC_000014.7:g.103107805A>C NCBI36
NG_041786.1:g.13759A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001370595.2:c.216A>C (COA8) MANE Select NP_001357524.1:p.Ile72=
ENST00000409074.8:c.216A>C (COA8) MANE Select ENSP00000386485.3:p.Ile72=
NM_001302652.1:c.255A>C (COA8) NP_001289581.1:p.Ile85=
NM_001302652.2:c.216A>C (COA8) NP_001289581.2:p.Ile72=
NM_001302653.1:c.255A>C (COA8) NP_001289582.1:p.Ile85=
NM_001302653.2:c.216A>C (COA8) NP_001289582.2:p.Ile72=
NM_001302654.1:c.255A>C (COA8) NP_001289583.1:p.Ile85=
NM_001302654.2:c.216A>C (COA8) NP_001289583.2:p.Ile72=
NM_032374.4:c.255A>C (COA8) NP_115750.2:p.Ile85=
NR_126431.1:n.426A>C (COA8)
NR_126431.2:n.423A>C (COA8)
NR_126432.1:n.261A>C (COA8)
NR_126432.2:n.258A>C (COA8)
ENST00000409074.6:c.255A>C (COA8) ENSP00000386485.2:p.Ile85=
ENST00000440963.1:c.160+8591A>C (COA8) ENSP00000388067.1:n.160+8591A>C
ENST00000440963.2:c.123+8591A>C (COA8) ENSP00000388067.2:n.123+8591A>C
ENST00000458117.5:c.239A>C (COA8)
ENST00000458117.6:c.216A>C (COA8) ENSP00000408525.2:p.Ile72=
ENST00000472726.2:c.255A>C ENSP00000439065.1:p.Ile85=
ENST00000472726.3:c.216A>C ENSP00000439065.2:p.Ile72=
ENST00000473127.5:c.-135A>C (COA8) ENSP00000489380.1:n.-135A>C
ENST00000476323.5:c.-135A>C (COA8) ENSP00000489047.1:n.-135A>C
ENST00000477116.5:c.-199A>C (COA8) ENSP00000489152.1:n.-199A>C
ENST00000489117.5:c.330A>C (COA8) ENSP00000451788.1:n.330A>C
ENST00000492189.5:c.-30+8332A>C (COA8) ENSP00000489557.1:n.-30+8332A>C
ENST00000495778.1:c.141A>C (COA8) ENSP00000451703.1:p.Ile47=
ENST00000497901.5:n.182A>C (COA8)
ENST00000554625.5:n.236A>C (COA8)
ENST00000554876.5:c.48A>C (COA8) ENSP00000489308.1:p.Ile16=
ENST00000556253.6:c.216A>C (COA8) ENSP00000451874.2:p.Ile72=
ENST00000557172.5:c.-2+9731A>C (KLC1) ENSP00000450786.1:n.-2+9731A>C
ENST00000674165.1:c.255A>C (COA8) ENSP00000501341.1:p.Ile85=