Canonical Allele Identifier: CA380277665
Community Standard Title: NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46879300G>A , CM000673.2:g.46879300G>A GRCh38
NC_000011.9:g.46900851G>A , CM000673.1:g.46900851G>A GRCh37
NC_000011.8:g.46857427G>A NCBI36
NG_021394.1:g.44323C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.2830C>T MANE Select NP_002325.2:p.Gln944Ter
ENST00000378623.6:c.2830C>T MANE Select ENSP00000367888.1:p.Gln944Ter
NM_002334.3:c.2830C>T NP_002325.2:p.Gln944Ter
ENST00000378623.5:c.2830C>T ENSP00000367888.1:p.Gln944Ter
XM_011520102.1:c.3043C>T XP_011518404.1:p.Gln1015Ter
XM_011520103.1:c.2026C>T XP_011518405.1:p.Gln676Ter
XM_011520103.2:c.2026C>T XP_011518405.1:p.Gln676Ter
XM_011520104.1:c.595C>T XP_011518406.1:p.Gln199Ter
XM_011520104.2:c.595C>T XP_011518406.1:p.Gln199Ter
XM_017017734.1:c.2830C>T XP_016873223.1:p.Gln944Ter