Canonical Allele Identifier: CA5145565
Gene: CCDC180 HGNC NCBI
SUGT1P4-STRA6LP-CCDC180 HGNC NCBI

Linked Data

dbSNP Id: rs755111766
gnomAD v3: 9-97343434-C-G
gnomAD v4: 9-97343434-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97343434C>G , CM000671.2:g.97343434C>G GRCh38
NC_000009.11:g.100105716C>G , CM000671.1:g.100105716C>G GRCh37
NC_000009.10:g.99145537C>G NCBI36
NG_052792.1:g.41131C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529487.3:c.2369C>G (CCDC180) MANE Select ENSP00000434727.2:p.Pro790Arg
ENST00000460482.6:n.2703C>G (CCDC180)
ENST00000494917.6:n.2572C>G (CCDC180)
ENST00000528678.1:n.465C>G (CCDC180)
ENST00000529487.1:c.2501C>G (CCDC180) ENSP00000434727.1:p.Pro834Arg
ENST00000530011.1:n.236-5677C>G (CCDC180)
NM_020893.2:c.2501C>G (CCDC180) NP_065944.2:p.Pro834Arg
NR_036527.1:n.3924C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3924C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3484C>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2492C>G (CCDC180) NP_001334939.1:p.Pro831Arg
NM_020893.3:c.2501C>G (CCDC180) NP_065944.2:p.Pro834Arg
NM_001348010.2:c.2492C>G (CCDC180) NP_001334939.1:p.Pro831Arg
NM_020893.4:c.2501C>G (CCDC180) NP_065944.2:p.Pro834Arg
NM_001348010.4:c.2360C>G (CCDC180) NP_001334939.2:p.Pro787Arg
NM_020893.6:c.2369C>G (CCDC180) MANE Select NP_065944.3:p.Pro790Arg