Canonical Allele Identifier: CA466158437

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343438-G-A
• MyVariant Identifiers: chr9:g.100105720G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343438G>A , CM000671.2:g.97343438G>A	GRCh38
NC_000009.11:g.100105720G>A , CM000671.1:g.100105720G>A	GRCh37
NC_000009.10:g.99145541G>A	NCBI36
NG_052792.1:g.41135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2373G>A (CCDC180) MANE Select	ENSP00000434727.2:p.Leu791=
ENST00000460482.6:n.2707G>A (CCDC180)
ENST00000494917.6:n.2576G>A (CCDC180)
ENST00000528678.1:n.469G>A (CCDC180)
ENST00000529487.1:c.2505G>A (CCDC180)	ENSP00000434727.1:p.Leu835=
ENST00000530011.1:n.236-5673G>A (CCDC180)
NM_020893.2:c.2505G>A (CCDC180)	NP_065944.2:p.Leu835=
NR_036527.1:n.3928G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3928G>A (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3488G>A (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2496G>A (CCDC180)	NP_001334939.1:p.Leu832=
NM_020893.3:c.2505G>A (CCDC180)	NP_065944.2:p.Leu835=
NM_001348010.2:c.2496G>A (CCDC180)	NP_001334939.1:p.Leu832=
NM_020893.4:c.2505G>A (CCDC180)	NP_065944.2:p.Leu835=
NM_001348010.4:c.2364G>A (CCDC180)	NP_001334939.2:p.Leu788=
NM_020893.6:c.2373G>A (CCDC180) MANE Select	NP_065944.3:p.Leu791=