Canonical Allele Identifier: CA374158736

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1251253097
• gnomAD v4: 9-97343464-A-T
• MyVariant Identifiers: chr9:g.100105746A>T (hg19) ; chr9:g.97343464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343464A>T , CM000671.2:g.97343464A>T	GRCh38
NC_000009.11:g.100105746A>T , CM000671.1:g.100105746A>T	GRCh37
NC_000009.10:g.99145567A>T	NCBI36
NG_052792.1:g.41161A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2399A>T (CCDC180) MANE Select	ENSP00000434727.2:p.His800Leu
ENST00000460482.6:n.2733A>T (CCDC180)
ENST00000494917.6:n.2602A>T (CCDC180)
ENST00000528678.1:n.495A>T (CCDC180)
ENST00000529487.1:c.2531A>T (CCDC180)	ENSP00000434727.1:p.His844Leu
ENST00000530011.1:n.236-5647A>T (CCDC180)
NM_020893.2:c.2531A>T (CCDC180)	NP_065944.2:p.His844Leu
NR_036527.1:n.3954A>T (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3954A>T (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3514A>T (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2522A>T (CCDC180)	NP_001334939.1:p.His841Leu
NM_020893.3:c.2531A>T (CCDC180)	NP_065944.2:p.His844Leu
NM_001348010.2:c.2522A>T (CCDC180)	NP_001334939.1:p.His841Leu
NM_020893.4:c.2531A>T (CCDC180)	NP_065944.2:p.His844Leu
NM_001348010.4:c.2390A>T (CCDC180)	NP_001334939.2:p.His797Leu
NM_020893.6:c.2399A>T (CCDC180) MANE Select	NP_065944.3:p.His800Leu