Canonical Allele Identifier: CA8076043
Community Standard Title: NM_020312.4(COQ9):c.-18G>C
Gene: COQ9 HGNC NCBI
CIAPIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57447488G>C , CM000678.2:g.57447488G>C GRCh38
NC_000016.9:g.57481400G>C , CM000678.1:g.57481400G>C GRCh37
NC_000016.8:g.56038901G>C NCBI36
NG_027696.1:g.5064G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020312.4:c.-18G>C (COQ9) MANE Select NP_064708.1:n.-18G>C
ENST00000262507.11:c.-18G>C (COQ9) MANE Select ENSP00000262507.5:n.-18G>C
NM_001308347.1:c.-202C>G (CIAPIN1) NP_001295276.1:n.-202C>G
NM_001308358.1:c.-202C>G (CIAPIN1) NP_001295287.1:n.-202C>G
NM_020312.3:c.-18G>C (COQ9) NP_064708.1:n.-18G>C
NM_020313.3:c.-202C>G (CIAPIN1) NP_064709.2:n.-202C>G
ENST00000262507.10:c.-18G>C (COQ9) ENSP00000262507.5:n.-18G>C
ENST00000394391.8:c.-202C>G (CIAPIN1) ENSP00000377914.4:n.-202C>G
ENST00000562734.5:n.7G>C (COQ9)
ENST00000564115.5:c.-18G>C (COQ9) ENSP00000455256.1:n.-18G>C
ENST00000564655.5:c.-18G>C (COQ9) ENSP00000454992.1:n.-18G>C
ENST00000565964.5:c.-18G>C (COQ9) ENSP00000458023.1:n.-18G>C
ENST00000566388.5:n.64G>C (COQ9)
ENST00000568790.5:n.7G>C (COQ9)