Canonical Allele Identifier: CA8855744

Gene: CSNK1D

Linked Data

• dbSNP Id: rs757837678
• ExAC: 17:80223576 A / G
• gnomAD v2: 17-80223576-A-G
• gnomAD v3: 17-82265700-A-G
• gnomAD v4: 17-82265700-A-G
• MyVariant Identifiers: chr17:g.80223576A>G (hg19) ; chr17:g.82265700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265700A>G , CM000679.2:g.82265700A>G	GRCh38
NC_000017.10:g.80223576A>G , CM000679.1:g.80223576A>G	GRCh37
NC_000017.9:g.77816865A>G	NCBI36
NG_012828.1:g.12998T>C
NG_012828.2:g.13043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.173T>C	ENSP00000376146.2:p.Met58Thr
ENST00000314028.11:c.173T>C MANE Select	ENSP00000324464.6:p.Met58Thr
ENST00000314028.10:c.173T>C	ENSP00000324464.6:p.Met58Thr
ENST00000392334.6:c.173T>C	ENSP00000376146.2:p.Met58Thr
ENST00000398519.9:c.173T>C	ENSP00000381531.5:p.Met58Thr
ENST00000403276.7:c.173T>C	ENSP00000385769.3:p.Met58Thr
ENST00000578194.5:n.379T>C
ENST00000579308.1:n.198T>C
ENST00000579316.5:n.230T>C
ENST00000580061.5:n.173T>C
ENST00000580446.1:c.76+7606T>C	ENSP00000463757.1:n.76+7606T>C
ENST00000581241.5:n.161T>C
ENST00000581660.5:c.*211T>C	ENSP00000464551.1:n.*211T>C
ENST00000582844.5:n.131T>C
ENST00000584472.5:n.258T>C
ENST00000585026.1:c.*219T>C	ENSP00000462144.1:n.*219T>C
NM_001893.4:c.173T>C	NP_001884.2:p.Met58Thr
NM_139062.2:c.173T>C	NP_620693.1:p.Met58Thr
NR_110578.1:n.534T>C
XM_005256336.2:c.173T>C	XP_005256393.1:p.Met58Thr
XM_005256337.3:c.173T>C	XP_005256394.1:p.Met58Thr
XR_243518.2:n.493T>C
XR_430028.2:n.493T>C
XR_933922.1:n.493T>C
XR_933923.1:n.493T>C
NM_001363749.1:c.173T>C	NP_001350678.1:p.Met58Thr
NM_001893.5:c.173T>C	NP_001884.2:p.Met58Thr
NM_139062.3:c.173T>C	NP_620693.1:p.Met58Thr
NR_110578.2:n.542T>C
XM_005256336.4:c.173T>C	XP_005256393.1:p.Met58Thr
XR_002957961.1:n.492T>C
XR_243518.4:n.492T>C
XR_430028.4:n.492T>C
XR_933922.3:n.492T>C
XR_933923.3:n.492T>C
NM_001363749.2:c.173T>C	NP_001350678.1:p.Met58Thr
NM_001893.6:c.173T>C MANE Select	NP_001884.2:p.Met58Thr
NM_139062.4:c.173T>C	NP_620693.1:p.Met58Thr