Canonical Allele Identifier: CA408628873

Gene: CDK5RAP1

Linked Data

• MyVariant Identifiers: chr20:g.31981841A>G (hg19) ; chr20:g.33394035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33394035A>G , CM000682.2:g.33394035A>G	GRCh38
NC_000020.10:g.31981841A>G , CM000682.1:g.31981841A>G	GRCh37
NC_000020.9:g.31445502A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346416.7:c.440T>C MANE Select	ENSP00000217372.2:p.Ile147Thr
ENST00000339269.5:c.440T>C	ENSP00000341840.5:p.Ile147Thr
ENST00000346416.6:c.440T>C	ENSP00000217372.2:p.Ile147Thr
ENST00000357886.8:c.440T>C	ENSP00000350558.4:p.Ile147Thr
ENST00000460043.5:n.82-1793T>C
ENST00000461356.5:n.91T>C
ENST00000471264.5:n.26-1793T>C
ENST00000473997.5:c.170T>C	ENSP00000476857.1:p.Ile57Thr
ENST00000477105.5:n.214T>C
ENST00000481964.5:n.84T>C
ENST00000482967.5:n.77+7393T>C
ENST00000488723.1:n.97-1793T>C
ENST00000496381.5:n.51+7393T>C
NM_001278167.1:c.440T>C	NP_001265096.1:p.Ile147Thr
NM_001278168.1:c.440T>C	NP_001265097.1:p.Ile147Thr
NM_001278169.1:c.359T>C	NP_001265098.1:p.Ile120Thr
NM_016082.4:c.443T>C	NP_057166.4:p.Ile148Thr
NM_016408.3:c.440T>C	NP_057492.2:p.Ile147Thr
XM_011528855.1:c.359T>C	XP_011527157.1:p.Ile120Thr
XM_011528856.1:c.132-1793T>C	XP_011527158.1:n.132-1793T>C
XM_011528857.1:c.110T>C	XP_011527159.1:p.Ile37Thr
XM_011528858.1:c.59T>C	XP_011527160.1:p.Ile20Thr
XM_011528859.1:c.59T>C	XP_011527161.1:p.Ile20Thr
XM_011528860.1:c.-112T>C	XP_011527162.1:n.-112T>C
XR_936548.1:n.703T>C
XR_936549.1:n.703T>C
NM_001365728.1:c.440T>C	NP_001352657.1:p.Ile147Thr
XM_011528856.3:c.132-1793T>C	XP_011527158.1:n.132-1793T>C
XM_011528857.2:c.110T>C	XP_011527159.1:p.Ile37Thr
XM_011528859.2:c.59T>C	XP_011527161.1:p.Ile20Thr
XM_017027876.2:c.-112T>C	XP_016883365.1:n.-112T>C
XM_024451892.1:c.-117T>C	XP_024307660.1:n.-117T>C
XM_024451893.1:c.-110T>C	XP_024307661.1:n.-110T>C
XM_024451894.1:c.-117T>C	XP_024307662.1:n.-117T>C
XM_024451895.1:c.-117T>C	XP_024307663.1:n.-117T>C
XM_024451896.1:c.-112T>C	XP_024307664.1:n.-112T>C
XM_024451897.1:c.-108-1793T>C	XP_024307665.1:n.-108-1793T>C
XR_001754289.2:n.561T>C
XR_001754290.2:n.561T>C
NM_016408.4:c.440T>C MANE Select	NP_057492.2:p.Ile147Thr
NM_001278167.2:c.440T>C	NP_001265096.1:p.Ile147Thr
NM_001278168.2:c.440T>C	NP_001265097.1:p.Ile147Thr