Canonical Allele Identifier: CA6149232

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2778871
• ClinVar RCV Id: RCV003663242
• dbSNP Id: rs758679423
• ExAC: 11:68153817 C / T
• gnomAD v2: 11-68153817-C-T
• gnomAD v4: 11-68386349-C-T
• COSMIC: COSM6224829
• MyVariant Identifiers: chr11:g.68153817C>T (hg19) ; chr11:g.68386349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68386349C>T , CM000673.2:g.68386349C>T	GRCh38
NC_000011.9:g.68153817C>T , CM000673.1:g.68153817C>T	GRCh37
NC_000011.8:g.67910393C>T	NCBI36
NG_015835.1:g.78710C>T
NG_015835.2:g.78710C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1049C>T MANE Select	ENSP00000294304.6:p.Thr350Met
ENST00000294304.11:c.1049C>T	ENSP00000294304.6:p.Thr350Met
ENST00000529993.5:c.1049C>T	ENSP00000436652.1:p.Thr350Met
NM_001291902.1:c.-717C>T	NP_001278831.1:n.-717C>T
NM_002335.3:c.1049C>T	NP_002326.2:p.Thr350Met
XM_005273994.2:c.1049C>T	XP_005274051.1:p.Thr350Met
XM_011545029.1:c.1076C>T	XP_011543331.1:p.Thr359Met
XM_011545030.1:c.1076C>T	XP_011543332.1:p.Thr359Met
XM_011545031.1:c.1076C>T	XP_011543333.1:p.Thr359Met
XR_949925.1:n.1091C>T
XR_949926.1:n.1091C>T
XR_001747874.1:n.1091C>T
XR_949925.2:n.1091C>T
XR_949926.2:n.1091C>T
NM_002335.4:c.1049C>T MANE Select	NP_002326.2:p.Thr350Met
NM_001291902.2:c.-717C>T	NP_001278831.1:n.-717C>T