Canonical Allele Identifier: CA374158556

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1228568071
• gnomAD v2: 9-100105667-A-T
• gnomAD v3: 9-97343385-A-T
• gnomAD v4: 9-97343385-A-T
• MyVariant Identifiers: chr9:g.100105667A>T (hg19) ; chr9:g.97343385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343385A>T , CM000671.2:g.97343385A>T	GRCh38
NC_000009.11:g.100105667A>T , CM000671.1:g.100105667A>T	GRCh37
NC_000009.10:g.99145488A>T	NCBI36
NG_052792.1:g.41082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2320A>T (CCDC180) MANE Select	ENSP00000434727.2:p.Met774Leu
ENST00000460482.6:n.2654A>T (CCDC180)
ENST00000494917.6:n.2523A>T (CCDC180)
ENST00000528678.1:n.416A>T (CCDC180)
ENST00000529487.1:c.2452A>T (CCDC180)	ENSP00000434727.1:p.Met818Leu
ENST00000530011.1:n.236-5726A>T (CCDC180)
NM_020893.2:c.2452A>T (CCDC180)	NP_065944.2:p.Met818Leu
NR_036527.1:n.3875A>T (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3875A>T (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3435A>T (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2443A>T (CCDC180)	NP_001334939.1:p.Met815Leu
NM_020893.3:c.2452A>T (CCDC180)	NP_065944.2:p.Met818Leu
NM_001348010.2:c.2443A>T (CCDC180)	NP_001334939.1:p.Met815Leu
NM_020893.4:c.2452A>T (CCDC180)	NP_065944.2:p.Met818Leu
NM_001348010.4:c.2311A>T (CCDC180)	NP_001334939.2:p.Met771Leu
NM_020893.6:c.2320A>T (CCDC180) MANE Select	NP_065944.3:p.Met774Leu