Canonical Allele Identifier: CA381614432

Gene: LRP5

Linked Data

• dbSNP Id: rs1273936125
• gnomAD v2: 11-68171078-T-C
• gnomAD v3: 11-68403610-T-C
• gnomAD v4: 11-68403610-T-C
• MyVariant Identifiers: chr11:g.68171078T>C (hg19) ; chr11:g.68403610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403610T>C , CM000673.2:g.68403610T>C	GRCh38
NC_000011.9:g.68171078T>C , CM000673.1:g.68171078T>C	GRCh37
NC_000011.8:g.67927654T>C	NCBI36
NG_015835.1:g.95971T>C
NG_015835.2:g.95971T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1712T>C MANE Select	ENSP00000294304.6:p.Val571Ala
ENST00000294304.11:c.1712T>C	ENSP00000294304.6:p.Val571Ala
ENST00000529993.5:c.*124T>C	ENSP00000436652.1:n.*124T>C
NM_001291902.1:c.-226T>C	NP_001278831.1:n.-226T>C
NM_002335.3:c.1712T>C	NP_002326.2:p.Val571Ala
XM_005273994.2:c.1712T>C	XP_005274051.1:p.Val571Ala
XM_011545029.1:c.1739T>C	XP_011543331.1:p.Val580Ala
XM_011545030.1:c.1739T>C	XP_011543332.1:p.Val580Ala
XM_011545031.1:c.1739T>C	XP_011543333.1:p.Val580Ala
XR_949925.1:n.1754T>C
XR_949926.1:n.1754T>C
XR_001747874.1:n.1754T>C
XR_949925.2:n.1754T>C
XR_949926.2:n.1754T>C
NM_002335.4:c.1712T>C MANE Select	NP_002326.2:p.Val571Ala
NM_001291902.2:c.-226T>C	NP_001278831.1:n.-226T>C