Canonical Allele Identifier: CA374158963

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343565-T-G
• MyVariant Identifiers: chr9:g.100105847T>G (hg19) ; chr9:g.97343565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343565T>G , CM000671.2:g.97343565T>G	GRCh38
NC_000009.11:g.100105847T>G , CM000671.1:g.100105847T>G	GRCh37
NC_000009.10:g.99145668T>G	NCBI36
NG_052792.1:g.41262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2498+2T>G (CCDC180) MANE Select	ENSP00000434727.2:n.2498+2T>G
ENST00000460482.6:n.2832+2T>G (CCDC180)
ENST00000494917.6:n.2703T>G (CCDC180)
ENST00000528678.1:n.594+2T>G (CCDC180)
ENST00000529487.1:c.2630+2T>G (CCDC180)	ENSP00000434727.1:n.2630+2T>G
ENST00000530011.1:n.236-5546T>G (CCDC180)
NM_020893.2:c.2630+2T>G (CCDC180)	NP_065944.2:n.2630+2T>G
NR_036527.1:n.4053+2T>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4053+2T>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3613+2T>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2621+2T>G (CCDC180)	NP_001334939.1:n.2621+2T>G
NM_020893.3:c.2630+2T>G (CCDC180)	NP_065944.2:n.2630+2T>G
NM_001348010.2:c.2621+2T>G (CCDC180)	NP_001334939.1:n.2621+2T>G
NM_020893.4:c.2630+2T>G (CCDC180)	NP_065944.2:n.2630+2T>G
NM_001348010.4:c.2489+2T>G (CCDC180)	NP_001334939.2:n.2489+2T>G
NM_020893.6:c.2498+2T>G (CCDC180) MANE Select	NP_065944.3:n.2498+2T>G