Canonical Allele Identifier: CA5145552

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• ClinVar Variation Id: 3138939
• ClinVar RCV Id: RCV004435299
• dbSNP Id: rs778435326
• ExAC: 9:100105656 A / C
• gnomAD v2: 9-100105656-A-C
• gnomAD v3: 9-97343374-A-C
• gnomAD v4: 9-97343374-A-C
• MyVariant Identifiers: chr9:g.100105656A>C (hg19) ; chr9:g.97343374A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343374A>C , CM000671.2:g.97343374A>C	GRCh38
NC_000009.11:g.100105656A>C , CM000671.1:g.100105656A>C	GRCh37
NC_000009.10:g.99145477A>C	NCBI36
NG_052792.1:g.41071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2309A>C (CCDC180) MANE Select	ENSP00000434727.2:p.Tyr770Ser
ENST00000460482.6:n.2643A>C (CCDC180)
ENST00000494917.6:n.2512A>C (CCDC180)
ENST00000528678.1:n.405A>C (CCDC180)
ENST00000529487.1:c.2441A>C (CCDC180)	ENSP00000434727.1:p.Tyr814Ser
ENST00000530011.1:n.236-5737A>C (CCDC180)
NM_020893.2:c.2441A>C (CCDC180)	NP_065944.2:p.Tyr814Ser
NR_036527.1:n.3864A>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3864A>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3424A>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2432A>C (CCDC180)	NP_001334939.1:p.Tyr811Ser
NM_020893.3:c.2441A>C (CCDC180)	NP_065944.2:p.Tyr814Ser
NM_001348010.2:c.2432A>C (CCDC180)	NP_001334939.1:p.Tyr811Ser
NM_020893.4:c.2441A>C (CCDC180)	NP_065944.2:p.Tyr814Ser
NM_001348010.4:c.2300A>C (CCDC180)	NP_001334939.2:p.Tyr767Ser
NM_020893.6:c.2309A>C (CCDC180) MANE Select	NP_065944.3:p.Tyr770Ser