Canonical Allele Identifier: CA8855746

Gene: CSNK1D

Linked Data

• dbSNP Id: rs751201781
• ExAC: 17:80223602 G / C
• gnomAD v2: 17-80223602-G-C
• gnomAD v4: 17-82265726-G-C
• MyVariant Identifiers: chr17:g.80223602G>C (hg19) ; chr17:g.82265726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265726G>C , CM000679.2:g.82265726G>C	GRCh38
NC_000017.10:g.80223602G>C , CM000679.1:g.80223602G>C	GRCh37
NC_000017.9:g.77816891G>C	NCBI36
NG_012828.1:g.12972C>G
NG_012828.2:g.13017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.147C>G	ENSP00000376146.2:p.Leu49=
ENST00000314028.11:c.147C>G MANE Select	ENSP00000324464.6:p.Leu49=
ENST00000314028.10:c.147C>G	ENSP00000324464.6:p.Leu49=
ENST00000392334.6:c.147C>G	ENSP00000376146.2:p.Leu49=
ENST00000398519.9:c.147C>G	ENSP00000381531.5:p.Leu49=
ENST00000403276.7:c.147C>G	ENSP00000385769.3:p.Leu49=
ENST00000578194.5:n.353C>G
ENST00000579308.1:n.172C>G
ENST00000579316.5:n.204C>G
ENST00000580061.5:n.147C>G
ENST00000580446.1:c.76+7580C>G	ENSP00000463757.1:n.76+7580C>G
ENST00000581241.5:n.135C>G
ENST00000581660.5:c.*185C>G	ENSP00000464551.1:n.*185C>G
ENST00000582844.5:n.105C>G
ENST00000584472.5:n.232C>G
ENST00000585026.1:c.*193C>G	ENSP00000462144.1:n.*193C>G
NM_001893.4:c.147C>G	NP_001884.2:p.Leu49=
NM_139062.2:c.147C>G	NP_620693.1:p.Leu49=
NR_110578.1:n.508C>G
XM_005256336.2:c.147C>G	XP_005256393.1:p.Leu49=
XM_005256337.3:c.147C>G	XP_005256394.1:p.Leu49=
XR_243518.2:n.467C>G
XR_430028.2:n.467C>G
XR_933922.1:n.467C>G
XR_933923.1:n.467C>G
NM_001363749.1:c.147C>G	NP_001350678.1:p.Leu49=
NM_001893.5:c.147C>G	NP_001884.2:p.Leu49=
NM_139062.3:c.147C>G	NP_620693.1:p.Leu49=
NR_110578.2:n.516C>G
XM_005256336.4:c.147C>G	XP_005256393.1:p.Leu49=
XR_002957961.1:n.466C>G
XR_243518.4:n.466C>G
XR_430028.4:n.466C>G
XR_933922.3:n.466C>G
XR_933923.3:n.466C>G
NM_001363749.2:c.147C>G	NP_001350678.1:p.Leu49=
NM_001893.6:c.147C>G MANE Select	NP_001884.2:p.Leu49=
NM_139062.4:c.147C>G	NP_620693.1:p.Leu49=