Canonical Allele Identifier: CA401596883

Gene: CSNK1D

Linked Data

• gnomAD v4: 17-82265728-G-A
• MyVariant Identifiers: chr17:g.80223604G>A (hg19) ; chr17:g.82265728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265728G>A , CM000679.2:g.82265728G>A	GRCh38
NC_000017.10:g.80223604G>A , CM000679.1:g.80223604G>A	GRCh37
NC_000017.9:g.77816893G>A	NCBI36
NG_012828.1:g.12970C>T
NG_012828.2:g.13015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.145C>T	ENSP00000376146.2:p.Leu49Phe
ENST00000314028.11:c.145C>T MANE Select	ENSP00000324464.6:p.Leu49Phe
ENST00000314028.10:c.145C>T	ENSP00000324464.6:p.Leu49Phe
ENST00000392334.6:c.145C>T	ENSP00000376146.2:p.Leu49Phe
ENST00000398519.9:c.145C>T	ENSP00000381531.5:p.Leu49Phe
ENST00000403276.7:c.145C>T	ENSP00000385769.3:p.Leu49Phe
ENST00000578194.5:n.351C>T
ENST00000579308.1:n.170C>T
ENST00000579316.5:n.202C>T
ENST00000580061.5:n.145C>T
ENST00000580446.1:c.76+7578C>T	ENSP00000463757.1:n.76+7578C>T
ENST00000581241.5:n.133C>T
ENST00000581660.5:c.*183C>T	ENSP00000464551.1:n.*183C>T
ENST00000582844.5:n.103C>T
ENST00000584472.5:n.230C>T
ENST00000585026.1:c.*191C>T	ENSP00000462144.1:n.*191C>T
NM_001893.4:c.145C>T	NP_001884.2:p.Leu49Phe
NM_139062.2:c.145C>T	NP_620693.1:p.Leu49Phe
NR_110578.1:n.506C>T
XM_005256336.2:c.145C>T	XP_005256393.1:p.Leu49Phe
XM_005256337.3:c.145C>T	XP_005256394.1:p.Leu49Phe
XR_243518.2:n.465C>T
XR_430028.2:n.465C>T
XR_933922.1:n.465C>T
XR_933923.1:n.465C>T
NM_001363749.1:c.145C>T	NP_001350678.1:p.Leu49Phe
NM_001893.5:c.145C>T	NP_001884.2:p.Leu49Phe
NM_139062.3:c.145C>T	NP_620693.1:p.Leu49Phe
NR_110578.2:n.514C>T
XM_005256336.4:c.145C>T	XP_005256393.1:p.Leu49Phe
XR_002957961.1:n.464C>T
XR_243518.4:n.464C>T
XR_430028.4:n.464C>T
XR_933922.3:n.464C>T
XR_933923.3:n.464C>T
NM_001363749.2:c.145C>T	NP_001350678.1:p.Leu49Phe
NM_001893.6:c.145C>T MANE Select	NP_001884.2:p.Leu49Phe
NM_139062.4:c.145C>T	NP_620693.1:p.Leu49Phe