Canonical Allele Identifier: CA2614712599

Gene: LRP5

Linked Data

• gnomAD v4: 11-68403893-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403893G>T , CM000673.2:g.68403893G>T	GRCh38
NC_000011.9:g.68171361G>T , CM000673.1:g.68171361G>T	GRCh37
NC_000011.8:g.67927937G>T	NCBI36
NG_015835.1:g.96254G>T
NG_015835.2:g.96254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+194G>T MANE Select	ENSP00000294304.6:n.1801+194G>T
ENST00000294304.11:c.1801+194G>T	ENSP00000294304.6:n.1801+194G>T
ENST00000529993.5:c.*213+194G>T	ENSP00000436652.1:n.*213+194G>T
NM_001291902.1:c.-137+194G>T	NP_001278831.1:n.-137+194G>T
NM_002335.3:c.1801+194G>T	NP_002326.2:n.1801+194G>T
XM_005273994.2:c.1801+194G>T	XP_005274051.1:n.1801+194G>T
XM_011545029.1:c.1828+194G>T	XP_011543331.1:n.1828+194G>T
XM_011545030.1:c.1828+194G>T	XP_011543332.1:n.1828+194G>T
XM_011545031.1:c.1828+194G>T	XP_011543333.1:n.1828+194G>T
XR_949925.1:n.1843+194G>T
XR_949926.1:n.1843+194G>T
XR_001747874.1:n.1843+194G>T
XR_949925.2:n.1843+194G>T
XR_949926.2:n.1843+194G>T
NM_002335.4:c.1801+194G>T MANE Select	NP_002326.2:n.1801+194G>T
NM_001291902.2:c.-137+194G>T	NP_001278831.1:n.-137+194G>T