Canonical Allele Identifier: CA374158660

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• MyVariant Identifiers: chr9:g.100105713T>C (hg19) ; chr9:g.97343431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343431T>C , CM000671.2:g.97343431T>C	GRCh38
NC_000009.11:g.100105713T>C , CM000671.1:g.100105713T>C	GRCh37
NC_000009.10:g.99145534T>C	NCBI36
NG_052792.1:g.41128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2366T>C (CCDC180) MANE Select	ENSP00000434727.2:p.Val789Ala
ENST00000460482.6:n.2700T>C (CCDC180)
ENST00000494917.6:n.2569T>C (CCDC180)
ENST00000528678.1:n.462T>C (CCDC180)
ENST00000529487.1:c.2498T>C (CCDC180)	ENSP00000434727.1:p.Val833Ala
ENST00000530011.1:n.236-5680T>C (CCDC180)
NM_020893.2:c.2498T>C (CCDC180)	NP_065944.2:p.Val833Ala
NR_036527.1:n.3921T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3921T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3481T>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2489T>C (CCDC180)	NP_001334939.1:p.Val830Ala
NM_020893.3:c.2498T>C (CCDC180)	NP_065944.2:p.Val833Ala
NM_001348010.2:c.2489T>C (CCDC180)	NP_001334939.1:p.Val830Ala
NM_020893.4:c.2498T>C (CCDC180)	NP_065944.2:p.Val833Ala
NM_001348010.4:c.2357T>C (CCDC180)	NP_001334939.2:p.Val786Ala
NM_020893.6:c.2366T>C (CCDC180) MANE Select	NP_065944.3:p.Val789Ala