Canonical Allele Identifier: CA374158774

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343483-G-A
• MyVariant Identifiers: chr9:g.100105765G>A (hg19) ; chr9:g.97343483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343483G>A , CM000671.2:g.97343483G>A	GRCh38
NC_000009.11:g.100105765G>A , CM000671.1:g.100105765G>A	GRCh37
NC_000009.10:g.99145586G>A	NCBI36
NG_052792.1:g.41180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2418G>A (CCDC180) MANE Select	ENSP00000434727.2:p.Met806Ile
ENST00000460482.6:n.2752G>A (CCDC180)
ENST00000494917.6:n.2621G>A (CCDC180)
ENST00000528678.1:n.514G>A (CCDC180)
ENST00000529487.1:c.2550G>A (CCDC180)	ENSP00000434727.1:p.Met850Ile
ENST00000530011.1:n.236-5628G>A (CCDC180)
NM_020893.2:c.2550G>A (CCDC180)	NP_065944.2:p.Met850Ile
NR_036527.1:n.3973G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3973G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3533G>A (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2541G>A (CCDC180)	NP_001334939.1:p.Met847Ile
NM_020893.3:c.2550G>A (CCDC180)	NP_065944.2:p.Met850Ile
NM_001348010.2:c.2541G>A (CCDC180)	NP_001334939.1:p.Met847Ile
NM_020893.4:c.2550G>A (CCDC180)	NP_065944.2:p.Met850Ile
NM_001348010.4:c.2409G>A (CCDC180)	NP_001334939.2:p.Met803Ile
NM_020893.6:c.2418G>A (CCDC180) MANE Select	NP_065944.3:p.Met806Ile