Canonical Allele Identifier: CA5145557

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs771791578
• ExAC: 9:100105679 A / G
• gnomAD v2: 9-100105679-A-G
• gnomAD v4: 9-97343397-A-G
• MyVariant Identifiers: chr9:g.100105679A>G (hg19) ; chr9:g.97343397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343397A>G , CM000671.2:g.97343397A>G	GRCh38
NC_000009.11:g.100105679A>G , CM000671.1:g.100105679A>G	GRCh37
NC_000009.10:g.99145500A>G	NCBI36
NG_052792.1:g.41094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2332A>G (CCDC180) MANE Select	ENSP00000434727.2:p.Thr778Ala
ENST00000460482.6:n.2666A>G (CCDC180)
ENST00000494917.6:n.2535A>G (CCDC180)
ENST00000528678.1:n.428A>G (CCDC180)
ENST00000529487.1:c.2464A>G (CCDC180)	ENSP00000434727.1:p.Thr822Ala
ENST00000530011.1:n.236-5714A>G (CCDC180)
NM_020893.2:c.2464A>G (CCDC180)	NP_065944.2:p.Thr822Ala
NR_036527.1:n.3887A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3887A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3447A>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2455A>G (CCDC180)	NP_001334939.1:p.Thr819Ala
NM_020893.3:c.2464A>G (CCDC180)	NP_065944.2:p.Thr822Ala
NM_001348010.2:c.2455A>G (CCDC180)	NP_001334939.1:p.Thr819Ala
NM_020893.4:c.2464A>G (CCDC180)	NP_065944.2:p.Thr822Ala
NM_001348010.4:c.2323A>G (CCDC180)	NP_001334939.2:p.Thr775Ala
NM_020893.6:c.2332A>G (CCDC180) MANE Select	NP_065944.3:p.Thr778Ala