Canonical Allele Identifier: CA381610308

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68115440T>C (hg19) ; chr11:g.68347972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347972T>C , CM000673.2:g.68347972T>C	GRCh38
NC_000011.9:g.68115440T>C , CM000673.1:g.68115440T>C	GRCh37
NC_000011.8:g.67872016T>C	NCBI36
NG_015835.1:g.40333T>C
NG_015835.2:g.40333T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.217T>C MANE Select	ENSP00000294304.6:p.Ser73Pro
ENST00000294304.11:c.217T>C	ENSP00000294304.6:p.Ser73Pro
ENST00000529993.5:c.217T>C	ENSP00000436652.1:p.Ser73Pro
NM_001291902.1:c.-1549T>C	NP_001278831.1:n.-1549T>C
NM_002335.3:c.217T>C	NP_002326.2:p.Ser73Pro
XM_005273994.2:c.217T>C	XP_005274051.1:p.Ser73Pro
XM_011545029.1:c.244T>C	XP_011543331.1:p.Ser82Pro
XM_011545030.1:c.244T>C	XP_011543332.1:p.Ser82Pro
XM_011545031.1:c.244T>C	XP_011543333.1:p.Ser82Pro
XR_949925.1:n.259T>C
XR_949926.1:n.259T>C
XR_001747874.1:n.259T>C
XR_949925.2:n.259T>C
XR_949926.2:n.259T>C
NM_002335.4:c.217T>C MANE Select	NP_002326.2:p.Ser73Pro
NM_001291902.2:c.-1549T>C	NP_001278831.1:n.-1549T>C