Canonical Allele Identifier: CA466159216

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343522-A-G
• MyVariant Identifiers: chr9:g.100105804A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343522A>G , CM000671.2:g.97343522A>G	GRCh38
NC_000009.11:g.100105804A>G , CM000671.1:g.100105804A>G	GRCh37
NC_000009.10:g.99145625A>G	NCBI36
NG_052792.1:g.41219A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2457A>G (CCDC180) MANE Select	ENSP00000434727.2:p.Gln819=
ENST00000460482.6:n.2791A>G (CCDC180)
ENST00000494917.6:n.2660A>G (CCDC180)
ENST00000528678.1:n.553A>G (CCDC180)
ENST00000529487.1:c.2589A>G (CCDC180)	ENSP00000434727.1:p.Gln863=
ENST00000530011.1:n.236-5589A>G (CCDC180)
NM_020893.2:c.2589A>G (CCDC180)	NP_065944.2:p.Gln863=
NR_036527.1:n.4012A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4012A>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3572A>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2580A>G (CCDC180)	NP_001334939.1:p.Gln860=
NM_020893.3:c.2589A>G (CCDC180)	NP_065944.2:p.Gln863=
NM_001348010.2:c.2580A>G (CCDC180)	NP_001334939.1:p.Gln860=
NM_020893.4:c.2589A>G (CCDC180)	NP_065944.2:p.Gln863=
NM_001348010.4:c.2448A>G (CCDC180)	NP_001334939.2:p.Gln816=
NM_020893.6:c.2457A>G (CCDC180) MANE Select	NP_065944.3:p.Gln819=