Canonical Allele Identifier: CA381616631

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68177557T>C (hg19) ; chr11:g.68410089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410089T>C , CM000673.2:g.68410089T>C	GRCh38
NC_000011.9:g.68177557T>C , CM000673.1:g.68177557T>C	GRCh37
NC_000011.8:g.67934133T>C	NCBI36
NG_015835.1:g.102450T>C
NG_015835.2:g.102450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2267T>C MANE Select	ENSP00000294304.6:p.Val756Ala
ENST00000294304.11:c.2267T>C	ENSP00000294304.6:p.Val756Ala
ENST00000528714.1:n.61T>C
ENST00000529993.5:c.*873T>C	ENSP00000436652.1:n.*873T>C
NM_001291902.1:c.524T>C	NP_001278831.1:p.Val175Ala
NM_002335.3:c.2267T>C	NP_002326.2:p.Val756Ala
XM_005273994.2:c.2267T>C	XP_005274051.1:p.Val756Ala
XM_011545029.1:c.2294T>C	XP_011543331.1:p.Val765Ala
XM_011545030.1:c.2294T>C	XP_011543332.1:p.Val765Ala
XM_011545031.1:c.2294T>C	XP_011543333.1:p.Val765Ala
XR_949925.1:n.2309T>C
XR_949926.1:n.2309T>C
XM_017017735.1:c.524T>C	XP_016873224.1:p.Val175Ala
XR_001747874.1:n.2309T>C
XR_949925.2:n.2309T>C
XR_949926.2:n.2309T>C
NM_002335.4:c.2267T>C MANE Select	NP_002326.2:p.Val756Ala
NM_001291902.2:c.524T>C	NP_001278831.1:p.Val175Ala