Canonical Allele Identifier: CA5145582

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs142232886
• ExAC: 9:100105818 C / G
• gnomAD v2: 9-100105818-C-G
• gnomAD v4: 9-97343536-C-G
• MyVariant Identifiers: chr9:g.100105818C>G (hg19) ; chr9:g.97343536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343536C>G , CM000671.2:g.97343536C>G	GRCh38
NC_000009.11:g.100105818C>G , CM000671.1:g.100105818C>G	GRCh37
NC_000009.10:g.99145639C>G	NCBI36
NG_052792.1:g.41233C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2471C>G (CCDC180) MANE Select	ENSP00000434727.2:p.Ser824Trp
ENST00000460482.6:n.2805C>G (CCDC180)
ENST00000494917.6:n.2674C>G (CCDC180)
ENST00000528678.1:n.567C>G (CCDC180)
ENST00000529487.1:c.2603C>G (CCDC180)	ENSP00000434727.1:p.Ser868Trp
ENST00000530011.1:n.236-5575C>G (CCDC180)
NM_020893.2:c.2603C>G (CCDC180)	NP_065944.2:p.Ser868Trp
NR_036527.1:n.4026C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4026C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3586C>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2594C>G (CCDC180)	NP_001334939.1:p.Ser865Trp
NM_020893.3:c.2603C>G (CCDC180)	NP_065944.2:p.Ser868Trp
NM_001348010.2:c.2594C>G (CCDC180)	NP_001334939.1:p.Ser865Trp
NM_020893.4:c.2603C>G (CCDC180)	NP_065944.2:p.Ser868Trp
NM_001348010.4:c.2462C>G (CCDC180)	NP_001334939.2:p.Ser821Trp
NM_020893.6:c.2471C>G (CCDC180) MANE Select	NP_065944.3:p.Ser824Trp