Canonical Allele Identifier: CA5145562

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs763004497
• ExAC: 9:100105702 T / C
• gnomAD v2: 9-100105702-T-C
• gnomAD v3: 9-97343420-T-C
• gnomAD v4: 9-97343420-T-C
• MyVariant Identifiers: chr9:g.100105702T>C (hg19) ; chr9:g.97343420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343420T>C , CM000671.2:g.97343420T>C	GRCh38
NC_000009.11:g.100105702T>C , CM000671.1:g.100105702T>C	GRCh37
NC_000009.10:g.99145523T>C	NCBI36
NG_052792.1:g.41117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2355T>C (CCDC180) MANE Select	ENSP00000434727.2:p.Tyr785=
ENST00000460482.6:n.2689T>C (CCDC180)
ENST00000494917.6:n.2558T>C (CCDC180)
ENST00000528678.1:n.451T>C (CCDC180)
ENST00000529487.1:c.2487T>C (CCDC180)	ENSP00000434727.1:p.Tyr829=
ENST00000530011.1:n.236-5691T>C (CCDC180)
NM_020893.2:c.2487T>C (CCDC180)	NP_065944.2:p.Tyr829=
NR_036527.1:n.3910T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3910T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3470T>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2478T>C (CCDC180)	NP_001334939.1:p.Tyr826=
NM_020893.3:c.2487T>C (CCDC180)	NP_065944.2:p.Tyr829=
NM_001348010.2:c.2478T>C (CCDC180)	NP_001334939.1:p.Tyr826=
NM_020893.4:c.2487T>C (CCDC180)	NP_065944.2:p.Tyr829=
NM_001348010.4:c.2346T>C (CCDC180)	NP_001334939.2:p.Tyr782=
NM_020893.6:c.2355T>C (CCDC180) MANE Select	NP_065944.3:p.Tyr785=