Canonical Allele Identifier: CA5145573

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs745406850
• ExAC: 9:100105768 C / T
• gnomAD v2: 9-100105768-C-T
• gnomAD v4: 9-97343486-C-T
• MyVariant Identifiers: chr9:g.100105768C>T (hg19) ; chr9:g.97343486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343486C>T , CM000671.2:g.97343486C>T	GRCh38
NC_000009.11:g.100105768C>T , CM000671.1:g.100105768C>T	GRCh37
NC_000009.10:g.99145589C>T	NCBI36
NG_052792.1:g.41183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2421C>T (CCDC180) MANE Select	ENSP00000434727.2:p.Phe807=
ENST00000460482.6:n.2755C>T (CCDC180)
ENST00000494917.6:n.2624C>T (CCDC180)
ENST00000528678.1:n.517C>T (CCDC180)
ENST00000529487.1:c.2553C>T (CCDC180)	ENSP00000434727.1:p.Phe851=
ENST00000530011.1:n.236-5625C>T (CCDC180)
NM_020893.2:c.2553C>T (CCDC180)	NP_065944.2:p.Phe851=
NR_036527.1:n.3976C>T (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3976C>T (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3536C>T (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2544C>T (CCDC180)	NP_001334939.1:p.Phe848=
NM_020893.3:c.2553C>T (CCDC180)	NP_065944.2:p.Phe851=
NM_001348010.2:c.2544C>T (CCDC180)	NP_001334939.1:p.Phe848=
NM_020893.4:c.2553C>T (CCDC180)	NP_065944.2:p.Phe851=
NM_001348010.4:c.2412C>T (CCDC180)	NP_001334939.2:p.Phe804=
NM_020893.6:c.2421C>T (CCDC180) MANE Select	NP_065944.3:p.Phe807=