Canonical Allele Identifier: CA295203533

Gene: CSNK1D

Linked Data

• dbSNP Id: rs570205864
• gnomAD v4: 17-82265755-C-G
• MyVariant Identifiers: chr17:g.80223631C>G (hg19) ; chr17:g.82265755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265755C>G , CM000679.2:g.82265755C>G	GRCh38
NC_000017.10:g.80223631C>G , CM000679.1:g.80223631C>G	GRCh37
NC_000017.9:g.77816920C>G	NCBI36
NG_012828.1:g.12943G>C
NG_012828.2:g.12988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.118G>C	ENSP00000376146.2:p.Glu40Gln
ENST00000314028.11:c.118G>C MANE Select	ENSP00000324464.6:p.Glu40Gln
ENST00000314028.10:c.118G>C	ENSP00000324464.6:p.Glu40Gln
ENST00000392334.6:c.118G>C	ENSP00000376146.2:p.Glu40Gln
ENST00000398519.9:c.118G>C	ENSP00000381531.5:p.Glu40Gln
ENST00000403276.7:c.118G>C	ENSP00000385769.3:p.Glu40Gln
ENST00000578194.5:n.324G>C
ENST00000579308.1:n.143G>C
ENST00000579316.5:n.175G>C
ENST00000580061.5:n.118G>C
ENST00000580446.1:c.76+7551G>C	ENSP00000463757.1:n.76+7551G>C
ENST00000581241.5:n.106G>C
ENST00000581660.5:c.*156G>C	ENSP00000464551.1:n.*156G>C
ENST00000582844.5:n.76G>C
ENST00000584472.5:n.203G>C
ENST00000585026.1:c.*164G>C	ENSP00000462144.1:n.*164G>C
NM_001893.4:c.118G>C	NP_001884.2:p.Glu40Gln
NM_139062.2:c.118G>C	NP_620693.1:p.Glu40Gln
NR_110578.1:n.479G>C
XM_005256336.2:c.118G>C	XP_005256393.1:p.Glu40Gln
XM_005256337.3:c.118G>C	XP_005256394.1:p.Glu40Gln
XR_243518.2:n.438G>C
XR_430028.2:n.438G>C
XR_933922.1:n.438G>C
XR_933923.1:n.438G>C
NM_001363749.1:c.118G>C	NP_001350678.1:p.Glu40Gln
NM_001893.5:c.118G>C	NP_001884.2:p.Glu40Gln
NM_139062.3:c.118G>C	NP_620693.1:p.Glu40Gln
NR_110578.2:n.487G>C
XM_005256336.4:c.118G>C	XP_005256393.1:p.Glu40Gln
XR_002957961.1:n.437G>C
XR_243518.4:n.437G>C
XR_430028.4:n.437G>C
XR_933922.3:n.437G>C
XR_933923.3:n.437G>C
NM_001363749.2:c.118G>C	NP_001350678.1:p.Glu40Gln
NM_001893.6:c.118G>C MANE Select	NP_001884.2:p.Glu40Gln
NM_139062.4:c.118G>C	NP_620693.1:p.Glu40Gln