Canonical Allele Identifier: CA743732496

Gene: CDK5RAP1

Linked Data

• dbSNP Id: rs1476357788
• gnomAD v3: 20-33393967-G-A
• gnomAD v4: 20-33393967-G-A
• MyVariant Identifiers: chr20:g.31981773G>A (hg19) ; chr20:g.33393967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33393967G>A , CM000682.2:g.33393967G>A	GRCh38
NC_000020.10:g.31981773G>A , CM000682.1:g.31981773G>A	GRCh37
NC_000020.9:g.31445434G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000346416.7:c.443+65C>T MANE Select	ENSP00000217372.2:n.443+65C>T
ENST00000339269.5:c.443+65C>T	ENSP00000341840.5:n.443+65C>T
ENST00000346416.6:c.443+65C>T	ENSP00000217372.2:n.443+65C>T
ENST00000357886.8:c.443+65C>T	ENSP00000350558.4:n.443+65C>T
ENST00000460043.5:n.82-1725C>T
ENST00000461356.5:n.94+65C>T
ENST00000471264.5:n.26-1725C>T
ENST00000473997.5:c.173+65C>T	ENSP00000476857.1:n.173+65C>T
ENST00000477105.5:n.217+65C>T
ENST00000481964.5:n.87+65C>T
ENST00000482967.5:n.77+7461C>T
ENST00000488723.1:n.97-1725C>T
ENST00000496381.5:n.51+7461C>T
NM_001278167.1:c.443+65C>T	NP_001265096.1:n.443+65C>T
NM_001278168.1:c.443+65C>T	NP_001265097.1:n.443+65C>T
NM_001278169.1:c.362+65C>T	NP_001265098.1:n.362+65C>T
NM_016082.4:c.446+65C>T	NP_057166.4:n.446+65C>T
NM_016408.3:c.443+65C>T	NP_057492.2:n.443+65C>T
XM_011528855.1:c.362+65C>T	XP_011527157.1:n.362+65C>T
XM_011528856.1:c.132-1725C>T	XP_011527158.1:n.132-1725C>T
XM_011528857.1:c.113+65C>T	XP_011527159.1:n.113+65C>T
XM_011528858.1:c.62+65C>T	XP_011527160.1:n.62+65C>T
XM_011528859.1:c.62+65C>T	XP_011527161.1:n.62+65C>T
XM_011528860.1:c.-109+65C>T	XP_011527162.1:n.-109+65C>T
XR_936548.1:n.706+65C>T
XR_936549.1:n.706+65C>T
NM_001365728.1:c.443+65C>T	NP_001352657.1:n.443+65C>T
XM_011528856.3:c.132-1725C>T	XP_011527158.1:n.132-1725C>T
XM_011528857.2:c.113+65C>T	XP_011527159.1:n.113+65C>T
XM_011528859.2:c.62+65C>T	XP_011527161.1:n.62+65C>T
XM_017027876.2:c.-109+65C>T	XP_016883365.1:n.-109+65C>T
XM_024451892.1:c.-114+65C>T	XP_024307660.1:n.-114+65C>T
XM_024451893.1:c.-107+65C>T	XP_024307661.1:n.-107+65C>T
XM_024451894.1:c.-114+65C>T	XP_024307662.1:n.-114+65C>T
XM_024451895.1:c.-114+65C>T	XP_024307663.1:n.-114+65C>T
XM_024451896.1:c.-109+65C>T	XP_024307664.1:n.-109+65C>T
XM_024451897.1:c.-108-1725C>T	XP_024307665.1:n.-108-1725C>T
XR_001754289.2:n.564+65C>T
XR_001754290.2:n.564+65C>T
NM_016408.4:c.443+65C>T MANE Select	NP_057492.2:n.443+65C>T
NM_001278167.2:c.443+65C>T	NP_001265096.1:n.443+65C>T
NM_001278168.2:c.443+65C>T	NP_001265097.1:n.443+65C>T