Canonical Allele Identifier: CA56723476

Gene: LRP1B

Linked Data

• dbSNP Id: rs6751191
• gnomAD v2: 2-141721068-A-G
• gnomAD v3: 2-140963499-A-G
• gnomAD v4: 2-140963499-A-G
• MyVariant Identifiers: chr2:g.141721068A>G (hg19) ; chr2:g.140963499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.140963499A>G , CM000664.2:g.140963499A>G	GRCh38
NC_000002.11:g.141721068A>G , CM000664.1:g.141721068A>G	GRCh37
NC_000002.10:g.141437538A>G	NCBI36
NG_051023.1:g.1173965T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389484.8:c.2888-11559T>C MANE Select	ENSP00000374135.3:n.2888-11559T>C
ENST00000389484.7:c.2888-11559T>C	ENSP00000374135.3:n.2888-11559T>C
ENST00000434794.1:c.323-11559T>C	ENSP00000413239.1:n.323-11559T>C
ENST00000618808.4:c.2546-11559T>C	ENSP00000478868.1:n.2546-11559T>C
NM_018557.2:c.2888-11559T>C	NP_061027.2:n.2888-11559T>C
XM_011511352.1:c.2999-11559T>C	XP_011509654.1:n.2999-11559T>C
XM_017004341.1:c.2498-11559T>C	XP_016859830.1:n.2498-11559T>C
XR_001738778.1:n.4622-11559T>C
NM_018557.3:c.2888-11559T>C MANE Select	NP_061027.2:n.2888-11559T>C