Canonical Allele Identifier: CA8855750

Gene: CSNK1D

Linked Data

• dbSNP Id: rs779980656
• ExAC: 17:80223652 C / T
• gnomAD v2: 17-80223652-C-T
• gnomAD v4: 17-82265776-C-T
• MyVariant Identifiers: chr17:g.80223652C>T (hg19) ; chr17:g.82265776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265776C>T , CM000679.2:g.82265776C>T	GRCh38
NC_000017.10:g.80223652C>T , CM000679.1:g.80223652C>T	GRCh37
NC_000017.9:g.77816941C>T	NCBI36
NG_012828.1:g.12922G>A
NG_012828.2:g.12967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.97G>A	ENSP00000376146.2:p.Glu33Lys
ENST00000314028.11:c.97G>A MANE Select	ENSP00000324464.6:p.Glu33Lys
ENST00000314028.10:c.97G>A	ENSP00000324464.6:p.Glu33Lys
ENST00000392334.6:c.97G>A	ENSP00000376146.2:p.Glu33Lys
ENST00000398519.9:c.97G>A	ENSP00000381531.5:p.Glu33Lys
ENST00000403276.7:c.97G>A	ENSP00000385769.3:p.Glu33Lys
ENST00000578194.5:n.303G>A
ENST00000579308.1:n.122G>A
ENST00000579316.5:n.154G>A
ENST00000580061.5:n.97G>A
ENST00000580446.1:c.76+7530G>A	ENSP00000463757.1:n.76+7530G>A
ENST00000581241.5:n.85G>A
ENST00000581660.5:c.*135G>A	ENSP00000464551.1:n.*135G>A
ENST00000582844.5:n.55G>A
ENST00000584472.5:n.182G>A
ENST00000585026.1:c.*143G>A	ENSP00000462144.1:n.*143G>A
NM_001893.4:c.97G>A	NP_001884.2:p.Glu33Lys
NM_139062.2:c.97G>A	NP_620693.1:p.Glu33Lys
NR_110578.1:n.458G>A
XM_005256336.2:c.97G>A	XP_005256393.1:p.Glu33Lys
XM_005256337.3:c.97G>A	XP_005256394.1:p.Glu33Lys
XR_243518.2:n.417G>A
XR_430028.2:n.417G>A
XR_933922.1:n.417G>A
XR_933923.1:n.417G>A
NM_001363749.1:c.97G>A	NP_001350678.1:p.Glu33Lys
NM_001893.5:c.97G>A	NP_001884.2:p.Glu33Lys
NM_139062.3:c.97G>A	NP_620693.1:p.Glu33Lys
NR_110578.2:n.466G>A
XM_005256336.4:c.97G>A	XP_005256393.1:p.Glu33Lys
XR_002957961.1:n.416G>A
XR_243518.4:n.416G>A
XR_430028.4:n.416G>A
XR_933922.3:n.416G>A
XR_933923.3:n.416G>A
NM_001363749.2:c.97G>A	NP_001350678.1:p.Glu33Lys
NM_001893.6:c.97G>A MANE Select	NP_001884.2:p.Glu33Lys
NM_139062.4:c.97G>A	NP_620693.1:p.Glu33Lys