Canonical Allele Identifier: CA203697
Gene: CP HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149198448T>A , CM000665.2:g.149198448T>A GRCh38
NC_000003.11:g.148916235T>A , CM000665.1:g.148916235T>A GRCh37
NC_000003.10:g.150398925T>A NCBI36
NG_011800.3:g.28598A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264613.11:c.1632A>T MANE Select ENSP00000264613.6:p.Glu544Asp
ENST00000264613.10:c.1632A>T ENSP00000264613.6:p.Glu544Asp
ENST00000462336.5:n.6A>T
ENST00000471356.1:n.451A>T
ENST00000481169.5:c.1632A>T ENSP00000418773.1:p.Glu544Asp
ENST00000489736.5:n.857A>T
ENST00000490639.5:n.1664A>T
ENST00000494544.1:c.981A>T ENSP00000420545.1:p.Glu327Asp
ENST00000497797.5:n.241A>T
XM_006713499.2:c.1632A>T XP_006713562.1:p.Glu544Asp
XM_006713500.2:c.1632A>T XP_006713563.1:p.Glu544Asp
XM_006713501.2:c.1632A>T XP_006713564.1:p.Glu544Asp
XM_006713502.2:c.1632A>T XP_006713565.1:p.Glu544Asp
XM_011512435.1:c.1632A>T XP_011510737.1:p.Glu544Asp
XR_427361.2:n.1890A>T
XM_006713499.3:c.1632A>T XP_006713562.1:p.Glu544Asp
XM_006713500.4:c.1632A>T XP_006713563.1:p.Glu544Asp
XM_006713501.3:c.1632A>T XP_006713564.1:p.Glu544Asp
XM_011512435.2:c.1632A>T XP_011510737.1:p.Glu544Asp
XM_017005734.2:c.1632A>T XP_016861223.1:p.Glu544Asp
XM_017005735.2:c.1632A>T XP_016861224.1:p.Glu544Asp
XR_427361.3:n.1848A>T
NM_000096.4:c.1632A>T MANE Select NP_000087.2:p.Glu544Asp
NR_046371.2:n.1669A>T