Canonical Allele Identifier: CA9816798

Gene: CDK5RAP1

Linked Data

• dbSNP Id: rs374388394
• ExAC: 20:31981839 T / C
• gnomAD v2: 20-31981839-T-C
• gnomAD v3: 20-33394033-T-C
• gnomAD v4: 20-33394033-T-C
• MyVariant Identifiers: chr20:g.31981839T>C (hg19) ; chr20:g.33394033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33394033T>C , CM000682.2:g.33394033T>C	GRCh38
NC_000020.10:g.31981839T>C , CM000682.1:g.31981839T>C	GRCh37
NC_000020.9:g.31445500T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346416.7:c.442A>G MANE Select	ENSP00000217372.2:p.Arg148Gly
ENST00000339269.5:c.442A>G	ENSP00000341840.5:p.Arg148Gly
ENST00000346416.6:c.442A>G	ENSP00000217372.2:p.Arg148Gly
ENST00000357886.8:c.442A>G	ENSP00000350558.4:p.Arg148Gly
ENST00000460043.5:n.82-1791A>G
ENST00000461356.5:n.93A>G
ENST00000471264.5:n.26-1791A>G
ENST00000473997.5:c.172A>G	ENSP00000476857.1:p.Arg58Gly
ENST00000477105.5:n.216A>G
ENST00000481964.5:n.86A>G
ENST00000482967.5:n.77+7395A>G
ENST00000488723.1:n.97-1791A>G
ENST00000496381.5:n.51+7395A>G
NM_001278167.1:c.442A>G	NP_001265096.1:p.Arg148Gly
NM_001278168.1:c.442A>G	NP_001265097.1:p.Arg148Gly
NM_001278169.1:c.361A>G	NP_001265098.1:p.Arg121Gly
NM_016082.4:c.445A>G	NP_057166.4:p.Arg149Gly
NM_016408.3:c.442A>G	NP_057492.2:p.Arg148Gly
XM_011528855.1:c.361A>G	XP_011527157.1:p.Arg121Gly
XM_011528856.1:c.132-1791A>G	XP_011527158.1:n.132-1791A>G
XM_011528857.1:c.112A>G	XP_011527159.1:p.Arg38Gly
XM_011528858.1:c.61A>G	XP_011527160.1:p.Arg21Gly
XM_011528859.1:c.61A>G	XP_011527161.1:p.Arg21Gly
XM_011528860.1:c.-110A>G	XP_011527162.1:n.-110A>G
XR_936548.1:n.705A>G
XR_936549.1:n.705A>G
NM_001365728.1:c.442A>G	NP_001352657.1:p.Arg148Gly
XM_011528856.3:c.132-1791A>G	XP_011527158.1:n.132-1791A>G
XM_011528857.2:c.112A>G	XP_011527159.1:p.Arg38Gly
XM_011528859.2:c.61A>G	XP_011527161.1:p.Arg21Gly
XM_017027876.2:c.-110A>G	XP_016883365.1:n.-110A>G
XM_024451892.1:c.-115A>G	XP_024307660.1:n.-115A>G
XM_024451893.1:c.-108A>G	XP_024307661.1:n.-108A>G
XM_024451894.1:c.-115A>G	XP_024307662.1:n.-115A>G
XM_024451895.1:c.-115A>G	XP_024307663.1:n.-115A>G
XM_024451896.1:c.-110A>G	XP_024307664.1:n.-110A>G
XM_024451897.1:c.-108-1791A>G	XP_024307665.1:n.-108-1791A>G
XR_001754289.2:n.563A>G
XR_001754290.2:n.563A>G
NM_016408.4:c.442A>G MANE Select	NP_057492.2:p.Arg148Gly
NM_001278167.2:c.442A>G	NP_001265096.1:p.Arg148Gly
NM_001278168.2:c.442A>G	NP_001265097.1:p.Arg148Gly