Canonical Allele Identifier: CA364880691
Community Standard Title: NM_014895.4(CEP162):c.4067A>G (p.Lys1356Arg)
Gene: CEP162 HGNC NCBI
MRAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.84125215T>C , CM000668.2:g.84125215T>C GRCh38
NC_000006.11:g.84834934T>C , CM000668.1:g.84834934T>C GRCh37
NC_000006.10:g.84891653T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014895.4:c.4067A>G (CEP162) MANE Select NP_055710.2:p.Lys1356Arg
ENST00000403245.8:c.4067A>G (CEP162) MANE Select ENSP00000385215.3:p.Lys1356Arg
NM_001286206.1:c.3839A>G (CEP162) NP_001273135.1:p.Lys1280Arg
NM_001286206.2:c.3839A>G (CEP162) NP_001273135.1:p.Lys1280Arg
NM_014895.3:c.4067A>G (CEP162) NP_055710.2:p.Lys1356Arg
ENST00000257766.8:c.3839A>G (CEP162) ENSP00000257766.4:p.Lys1280Arg
ENST00000403245.7:c.4067A>G (CEP162) ENSP00000385215.3:p.Lys1356Arg
ENST00000461137.5:n.3191A>G (CEP162)
ENST00000487999.1:n.1370A>G (CEP162)
ENST00000617909.1:c.3839A>G (CEP162) ENSP00000481760.1:p.Lys1280Arg
ENST00000617909.2:c.3839A>G (CEP162) ENSP00000481760.1:p.Lys1280Arg
XM_005248674.3:c.3953A>G (CEP162) XP_005248731.1:p.Lys1318Arg
XM_005248674.4:c.3953A>G (CEP162) XP_005248731.1:p.Lys1318Arg
XM_006715380.2:c.3839A>G (CEP162) XP_006715443.1:p.Lys1280Arg
XM_006715380.3:c.3839A>G (CEP162) XP_006715443.1:p.Lys1280Arg
XM_011535402.1:c.228-14255T>C (MRAP2) XP_011533704.1:n.228-14255T>C
XM_011535403.1:c.228-14255T>C (MRAP2) XP_011533705.1:n.228-14255T>C
XM_011535590.1:c.3953A>G (CEP162) XP_011533892.1:p.Lys1318Arg
XM_011535591.1:c.3839A>G (CEP162) XP_011533893.1:p.Lys1280Arg
XM_011535592.1:c.2900A>G (CEP162) XP_011533894.1:p.Lys967Arg
XM_011535592.3:c.2900A>G (CEP162) XP_011533894.1:p.Lys967Arg
XM_017010221.2:c.228-14255T>C (MRAP2) XP_016865710.1:n.228-14255T>C
XM_017010483.2:c.3953A>G (CEP162) XP_016865972.1:p.Lys1318Arg
XM_017010484.2:c.3839A>G (CEP162) XP_016865973.1:p.Lys1280Arg
XR_001743262.2:n.4449A>G (CEP162)
XR_001743263.2:n.4330A>G (CEP162)
XR_001743264.2:n.4343A>G (CEP162)
XR_942351.1:n.4576A>G (CEP162)
XR_942351.3:n.4584A>G (CEP162)