Canonical Allele Identifier: CA374158646

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343425-T-C
• MyVariant Identifiers: chr9:g.100105707T>C (hg19) ; chr9:g.97343425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343425T>C , CM000671.2:g.97343425T>C	GRCh38
NC_000009.11:g.100105707T>C , CM000671.1:g.100105707T>C	GRCh37
NC_000009.10:g.99145528T>C	NCBI36
NG_052792.1:g.41122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2360T>C (CCDC180) MANE Select	ENSP00000434727.2:p.Val787Ala
ENST00000460482.6:n.2694T>C (CCDC180)
ENST00000494917.6:n.2563T>C (CCDC180)
ENST00000528678.1:n.456T>C (CCDC180)
ENST00000529487.1:c.2492T>C (CCDC180)	ENSP00000434727.1:p.Val831Ala
ENST00000530011.1:n.236-5686T>C (CCDC180)
NM_020893.2:c.2492T>C (CCDC180)	NP_065944.2:p.Val831Ala
NR_036527.1:n.3915T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3915T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3475T>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2483T>C (CCDC180)	NP_001334939.1:p.Val828Ala
NM_020893.3:c.2492T>C (CCDC180)	NP_065944.2:p.Val831Ala
NM_001348010.2:c.2483T>C (CCDC180)	NP_001334939.1:p.Val828Ala
NM_020893.4:c.2492T>C (CCDC180)	NP_065944.2:p.Val831Ala
NM_001348010.4:c.2351T>C (CCDC180)	NP_001334939.2:p.Val784Ala
NM_020893.6:c.2360T>C (CCDC180) MANE Select	NP_065944.3:p.Val787Ala