Canonical Allele Identifier: CA174867

Gene: CCDC171

Linked Data

• ClinVar Variation Id: 161830
• ClinVar RCV Id: RCV000149366
• dbSNP Id: rs193920965
• gnomAD v4: 9-15744627-C-T
• COSMIC: COSM1178760 ; COSM1178761
• MyVariant Identifiers: chr9:g.15744625C>T (hg19) ; chr9:g.15744627C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15744627C>T , CM000671.2:g.15744627C>T	GRCh38
NC_000009.11:g.15744625C>T , CM000671.1:g.15744625C>T	GRCh37
NC_000009.10:g.15734625C>T	NCBI36
NG_052634.1:g.196754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380701.8:c.2404C>T MANE Select	ENSP00000370077.3:p.Arg802Trp
ENST00000380701.7:c.2404C>T	ENSP00000370077.3:p.Arg802Trp
ENST00000449575.6:c.123C>T
NM_173550.2:c.2404C>T	NP_775821.2:p.Arg802Trp
XM_005251397.1:c.2428C>T	XP_005251454.1:p.Arg810Trp
XM_005251398.2:c.2428C>T	XP_005251455.1:p.Arg810Trp
XM_005251399.3:c.2428C>T	XP_005251456.1:p.Arg810Trp
XM_011517787.1:c.2428C>T	XP_011516089.1:p.Arg810Trp
XM_011517788.1:c.2428C>T	XP_011516090.1:p.Arg810Trp
XM_011517789.1:c.2428C>T	XP_011516091.1:p.Arg810Trp
XM_011517790.1:c.2428C>T	XP_011516092.1:p.Arg810Trp
XM_011517791.1:c.2296C>T	XP_011516093.1:p.Arg766Trp
XM_011517792.1:c.2428C>T	XP_011516094.1:p.Arg810Trp
XM_011517793.1:c.2428C>T	XP_011516095.1:p.Arg810Trp
XM_011517794.1:c.2428C>T	XP_011516096.1:p.Arg810Trp
XM_011517795.1:c.2428C>T	XP_011516097.1:p.Arg810Trp
XM_011517796.1:c.1957C>T	XP_011516098.1:p.Arg653Trp
NM_001348002.1:c.2149C>T	NP_001334931.1:p.Arg717Trp
NM_001355547.1:c.2428C>T	NP_001342476.1:p.Arg810Trp
NM_173550.3:c.2404C>T	NP_775821.2:p.Arg802Trp
XM_005251397.2:c.2428C>T	XP_005251454.1:p.Arg810Trp
XM_005251398.4:c.2428C>T	XP_005251455.1:p.Arg810Trp
XM_005251399.4:c.2428C>T	XP_005251456.1:p.Arg810Trp
XM_011517788.2:c.2428C>T	XP_011516090.1:p.Arg810Trp
XM_011517791.3:c.2296C>T	XP_011516093.1:p.Arg766Trp
XM_011517796.3:c.1957C>T	XP_011516098.1:p.Arg653Trp
XM_017014431.2:c.2428C>T	XP_016869920.1:p.Arg810Trp
XM_017014432.2:c.2428C>T	XP_016869921.1:p.Arg810Trp
XM_017014433.2:c.2428C>T	XP_016869922.1:p.Arg810Trp
XM_017014434.2:c.2428C>T	XP_016869923.1:p.Arg810Trp
XM_017014435.2:c.2428C>T	XP_016869924.1:p.Arg810Trp
XM_017014436.2:c.2428C>T	XP_016869925.1:p.Arg810Trp
XM_017014437.2:c.2428C>T	XP_016869926.1:p.Arg810Trp
XM_017014438.2:c.2428C>T	XP_016869927.1:p.Arg810Trp
XM_017014440.1:c.2149C>T	XP_016869929.1:p.Arg717Trp
XM_017014441.2:c.2428C>T	XP_016869930.1:p.Arg810Trp
XM_017014442.2:c.2428C>T	XP_016869931.1:p.Arg810Trp
XM_017014443.1:c.1873C>T	XP_016869932.1:p.Arg625Trp
XR_001746227.2:n.2898C>T
XR_001746228.2:n.2898C>T
XR_001746229.2:n.2898C>T
NM_173550.4:c.2404C>T MANE Select	NP_775821.2:p.Arg802Trp
NM_001348002.2:c.2149C>T	NP_001334931.1:p.Arg717Trp