Canonical Allele Identifier: CA1170617
Gene: PEAR1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156913423C>A , CM000663.2:g.156913423C>A GRCh38
NC_000001.10:g.156883215C>A , CM000663.1:g.156883215C>A GRCh37
NC_000001.9:g.155149839C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292357.8:c.2544C>A MANE Select ENSP00000292357.7:p.Asn848Lys
ENST00000292357.7:c.2544C>A ENSP00000292357.7:p.Asn848Lys
ENST00000338302.7:c.2544C>A ENSP00000344465.3:p.Asn848Lys
ENST00000469390.5:n.2272C>A
NM_001080471.1:c.2544C>A NP_001073940.1:p.Asn848Lys
XM_005245141.2:c.2544C>A XP_005245198.1:p.Asn848Lys
XM_006711302.2:c.2571C>A XP_006711365.1:p.Asn857Lys
XM_011509508.1:c.2571C>A XP_011507810.1:p.Asn857Lys
XM_011509509.1:c.2571C>A XP_011507811.1:p.Asn857Lys
XM_011509510.1:c.2544C>A XP_011507812.1:p.Asn848Lys
XM_011509511.1:c.2439C>A XP_011507813.1:p.Asn813Lys
XM_011509512.1:c.2037C>A XP_011507814.1:p.Asn679Lys
NM_001353682.1:c.2352C>A NP_001340611.1:p.Asn784Lys
NM_001353683.1:c.2352C>A NP_001340612.1:p.Asn784Lys
XM_005245141.3:c.2544C>A XP_005245198.1:p.Asn848Lys
XM_011509510.2:c.2544C>A XP_011507812.1:p.Asn848Lys
XM_011509511.2:c.2439C>A XP_011507813.1:p.Asn813Lys
XM_011509512.2:c.2037C>A XP_011507814.1:p.Asn679Lys
XM_017001234.2:c.2808C>A XP_016856723.1:p.Asn936Lys
XM_017001235.2:c.2676C>A XP_016856724.1:p.Asn892Lys
XM_017001236.1:c.2544C>A XP_016856725.1:p.Asn848Lys
XM_017001238.1:c.2352C>A XP_016856727.1:p.Asn784Lys
XM_017001239.1:c.2352C>A XP_016856728.1:p.Asn784Lys
XM_017001240.1:c.2160C>A XP_016856729.1:p.Asn720Lys
XM_017001241.1:c.2160C>A XP_016856730.1:p.Asn720Lys
XM_017001242.1:c.2160C>A XP_016856731.1:p.Asn720Lys
NM_001353682.2:c.2352C>A NP_001340611.1:p.Asn784Lys
NM_001353683.2:c.2352C>A NP_001340612.1:p.Asn784Lys
NM_001080471.3:c.2544C>A MANE Select NP_001073940.1:p.Asn848Lys