Canonical Allele Identifier: CA401596728

Gene: CSNK1D

Linked Data

• dbSNP Id: rs1484202328
• gnomAD v2: 17-80223570-T-A
• gnomAD v3: 17-82265694-T-A
• gnomAD v4: 17-82265694-T-A
• MyVariant Identifiers: chr17:g.80223570T>A (hg19) ; chr17:g.82265694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265694T>A , CM000679.2:g.82265694T>A	GRCh38
NC_000017.10:g.80223570T>A , CM000679.1:g.80223570T>A	GRCh37
NC_000017.9:g.77816859T>A	NCBI36
NG_012828.1:g.13004A>T
NG_012828.2:g.13049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.179A>T	ENSP00000376146.2:p.Gln60Leu
ENST00000314028.11:c.179A>T MANE Select	ENSP00000324464.6:p.Gln60Leu
ENST00000314028.10:c.179A>T	ENSP00000324464.6:p.Gln60Leu
ENST00000392334.6:c.179A>T	ENSP00000376146.2:p.Gln60Leu
ENST00000398519.9:c.179A>T	ENSP00000381531.5:p.Gln60Leu
ENST00000403276.7:c.179A>T	ENSP00000385769.3:p.Gln60Leu
ENST00000578194.5:n.385A>T
ENST00000579308.1:n.204A>T
ENST00000579316.5:n.236A>T
ENST00000580061.5:n.179A>T
ENST00000580446.1:c.76+7612A>T	ENSP00000463757.1:n.76+7612A>T
ENST00000581241.5:n.167A>T
ENST00000581660.5:c.*217A>T	ENSP00000464551.1:n.*217A>T
ENST00000582844.5:n.137A>T
ENST00000584472.5:n.264A>T
ENST00000585026.1:c.*225A>T	ENSP00000462144.1:n.*225A>T
NM_001893.4:c.179A>T	NP_001884.2:p.Gln60Leu
NM_139062.2:c.179A>T	NP_620693.1:p.Gln60Leu
NR_110578.1:n.540A>T
XM_005256336.2:c.179A>T	XP_005256393.1:p.Gln60Leu
XM_005256337.3:c.179A>T	XP_005256394.1:p.Gln60Leu
XR_243518.2:n.499A>T
XR_430028.2:n.499A>T
XR_933922.1:n.499A>T
XR_933923.1:n.499A>T
NM_001363749.1:c.179A>T	NP_001350678.1:p.Gln60Leu
NM_001893.5:c.179A>T	NP_001884.2:p.Gln60Leu
NM_139062.3:c.179A>T	NP_620693.1:p.Gln60Leu
NR_110578.2:n.548A>T
XM_005256336.4:c.179A>T	XP_005256393.1:p.Gln60Leu
XR_002957961.1:n.498A>T
XR_243518.4:n.498A>T
XR_430028.4:n.498A>T
XR_933922.3:n.498A>T
XR_933923.3:n.498A>T
NM_001363749.2:c.179A>T	NP_001350678.1:p.Gln60Leu
NM_001893.6:c.179A>T MANE Select	NP_001884.2:p.Gln60Leu
NM_139062.4:c.179A>T	NP_620693.1:p.Gln60Leu