Canonical Allele Identifier: CA374158871

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343523-G-A
• MyVariant Identifiers: chr9:g.100105805G>A (hg19) ; chr9:g.97343523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343523G>A , CM000671.2:g.97343523G>A	GRCh38
NC_000009.11:g.100105805G>A , CM000671.1:g.100105805G>A	GRCh37
NC_000009.10:g.99145626G>A	NCBI36
NG_052792.1:g.41220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2458G>A (CCDC180) MANE Select	ENSP00000434727.2:p.Val820Met
ENST00000460482.6:n.2792G>A (CCDC180)
ENST00000494917.6:n.2661G>A (CCDC180)
ENST00000528678.1:n.554G>A (CCDC180)
ENST00000529487.1:c.2590G>A (CCDC180)	ENSP00000434727.1:p.Val864Met
ENST00000530011.1:n.236-5588G>A (CCDC180)
NM_020893.2:c.2590G>A (CCDC180)	NP_065944.2:p.Val864Met
NR_036527.1:n.4013G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4013G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3573G>A (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2581G>A (CCDC180)	NP_001334939.1:p.Val861Met
NM_020893.3:c.2590G>A (CCDC180)	NP_065944.2:p.Val864Met
NM_001348010.2:c.2581G>A (CCDC180)	NP_001334939.1:p.Val861Met
NM_020893.4:c.2590G>A (CCDC180)	NP_065944.2:p.Val864Met
NM_001348010.4:c.2449G>A (CCDC180)	NP_001334939.2:p.Val817Met
NM_020893.6:c.2458G>A (CCDC180) MANE Select	NP_065944.3:p.Val820Met