Canonical Allele Identifier: CA495626990
Gene: COQ9 HGNC NCBI
CIAPIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57447523A>G , CM000678.2:g.57447523A>G GRCh38
NC_000016.9:g.57481435A>G , CM000678.1:g.57481435A>G GRCh37
NC_000016.8:g.56038936A>G NCBI36
NG_027696.1:g.5099A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262507.11:c.18A>G (COQ9) MANE Select ENSP00000262507.5:p.Val6=
ENST00000262507.10:c.18A>G (COQ9) ENSP00000262507.5:p.Val6=
ENST00000394391.8:c.-237T>C (CIAPIN1) ENSP00000377914.4:n.-237T>C
ENST00000562426.5:n.21A>G (COQ9)
ENST00000562734.5:n.42A>G (COQ9)
ENST00000564115.5:c.18A>G (COQ9) ENSP00000455256.1:p.Val6=
ENST00000564655.5:c.18A>G (COQ9) ENSP00000454992.1:p.Val6=
ENST00000565964.5:c.18A>G (COQ9) ENSP00000458023.1:p.Val6=
ENST00000566388.5:n.99A>G (COQ9)
ENST00000567072.5:c.18A>G (COQ9) ENSP00000456728.1:p.Val6=
ENST00000567933.5:c.18A>G (COQ9) ENSP00000456174.1:p.Val6=
ENST00000568790.5:n.42A>G (COQ9)
NM_001308347.1:c.-237T>C (CIAPIN1) NP_001295276.1:n.-237T>C
NM_001308358.1:c.-237T>C (CIAPIN1) NP_001295287.1:n.-237T>C
NM_020312.3:c.18A>G (COQ9) NP_064708.1:p.Val6=
NM_020313.3:c.-237T>C (CIAPIN1) NP_064709.2:n.-237T>C
NM_020312.4:c.18A>G (COQ9) MANE Select NP_064708.1:p.Val6=