Canonical Allele Identifier: CA5145568

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1947717
• ExAC: 9:100105735 T / C
• gnomAD v2: 9-100105735-T-C
• gnomAD v3: 9-97343453-T-C
• gnomAD v4: 9-97343453-T-C
• MyVariant Identifiers: chr9:g.100105735T>C (hg19) ; chr9:g.97343453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343453T>C , CM000671.2:g.97343453T>C	GRCh38
NC_000009.11:g.100105735T>C , CM000671.1:g.100105735T>C	GRCh37
NC_000009.10:g.99145556T>C	NCBI36
NG_052792.1:g.41150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2388T>C (CCDC180) MANE Select	ENSP00000434727.2:p.Cys796=
ENST00000460482.6:n.2722T>C (CCDC180)
ENST00000494917.6:n.2591T>C (CCDC180)
ENST00000528678.1:n.484T>C (CCDC180)
ENST00000529487.1:c.2520T>C (CCDC180)	ENSP00000434727.1:p.Cys840=
ENST00000530011.1:n.236-5658T>C (CCDC180)
NM_020893.2:c.2520T>C (CCDC180)	NP_065944.2:p.Cys840=
NR_036527.1:n.3943T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3943T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3503T>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2511T>C (CCDC180)	NP_001334939.1:p.Cys837=
NM_020893.3:c.2520T>C (CCDC180)	NP_065944.2:p.Cys840=
NM_001348010.2:c.2511T>C (CCDC180)	NP_001334939.1:p.Cys837=
NM_020893.4:c.2520T>C (CCDC180)	NP_065944.2:p.Cys840=
NM_001348010.4:c.2379T>C (CCDC180)	NP_001334939.2:p.Cys793=
NM_020893.6:c.2388T>C (CCDC180) MANE Select	NP_065944.3:p.Cys796=