Canonical Allele Identifier: CA408628926

Gene: CDK5RAP1

Linked Data

• MyVariant Identifiers: chr20:g.31981867A>C (hg19) ; chr20:g.33394061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33394061A>C , CM000682.2:g.33394061A>C	GRCh38
NC_000020.10:g.31981867A>C , CM000682.1:g.31981867A>C	GRCh37
NC_000020.9:g.31445528A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346416.7:c.414T>G MANE Select	ENSP00000217372.2:p.Asp138Glu
ENST00000339269.5:c.414T>G	ENSP00000341840.5:p.Asp138Glu
ENST00000346416.6:c.414T>G	ENSP00000217372.2:p.Asp138Glu
ENST00000357886.8:c.414T>G	ENSP00000350558.4:p.Asp138Glu
ENST00000460043.5:n.82-1819T>G
ENST00000461356.5:n.65T>G
ENST00000471264.5:n.26-1819T>G
ENST00000473997.5:c.144T>G	ENSP00000476857.1:p.Asp48Glu
ENST00000477105.5:n.188T>G
ENST00000481964.5:n.58T>G
ENST00000482967.5:n.77+7367T>G
ENST00000488723.1:n.97-1819T>G
ENST00000496381.5:n.51+7367T>G
NM_001278167.1:c.414T>G	NP_001265096.1:p.Asp138Glu
NM_001278168.1:c.414T>G	NP_001265097.1:p.Asp138Glu
NM_001278169.1:c.333T>G	NP_001265098.1:p.Asp111Glu
NM_016082.4:c.417T>G	NP_057166.4:p.Asp139Glu
NM_016408.3:c.414T>G	NP_057492.2:p.Asp138Glu
XM_011528855.1:c.333T>G	XP_011527157.1:p.Asp111Glu
XM_011528856.1:c.132-1819T>G	XP_011527158.1:n.132-1819T>G
XM_011528857.1:c.84T>G	XP_011527159.1:p.Asp28Glu
XM_011528858.1:c.33T>G	XP_011527160.1:p.Asp11Glu
XM_011528859.1:c.33T>G	XP_011527161.1:p.Asp11Glu
XM_011528860.1:c.-138T>G	XP_011527162.1:n.-138T>G
XR_936548.1:n.677T>G
XR_936549.1:n.677T>G
NM_001365728.1:c.414T>G	NP_001352657.1:p.Asp138Glu
XM_011528856.3:c.132-1819T>G	XP_011527158.1:n.132-1819T>G
XM_011528857.2:c.84T>G	XP_011527159.1:p.Asp28Glu
XM_011528859.2:c.33T>G	XP_011527161.1:p.Asp11Glu
XM_017027876.2:c.-138T>G	XP_016883365.1:n.-138T>G
XM_024451892.1:c.-143T>G	XP_024307660.1:n.-143T>G
XM_024451893.1:c.-136T>G	XP_024307661.1:n.-136T>G
XM_024451894.1:c.-143T>G	XP_024307662.1:n.-143T>G
XM_024451895.1:c.-143T>G	XP_024307663.1:n.-143T>G
XM_024451896.1:c.-138T>G	XP_024307664.1:n.-138T>G
XM_024451897.1:c.-108-1819T>G	XP_024307665.1:n.-108-1819T>G
XR_001754289.2:n.535T>G
XR_001754290.2:n.535T>G
NM_016408.4:c.414T>G MANE Select	NP_057492.2:p.Asp138Glu
NM_001278167.2:c.414T>G	NP_001265096.1:p.Asp138Glu
NM_001278168.2:c.414T>G	NP_001265097.1:p.Asp138Glu