Canonical Allele Identifier: CA91495665
Gene: LRPAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1056121700
gnomAD v2: 4-3519752-G-A
gnomAD v3: 4-3518025-G-A
gnomAD v4: 4-3518025-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3518025G>A , CM000666.2:g.3518025G>A GRCh38
NC_000004.11:g.3519752G>A , CM000666.1:g.3519752G>A GRCh37
NC_000004.10:g.3489550G>A NCBI36
NG_033873.1:g.19473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648517.1:c.751+9C>T ENSP00000496947.1:n.751+9C>T
ENST00000650182.1:c.751+9C>T MANE Select ENSP00000497444.1:n.751+9C>T
ENST00000296325.9:n.714+9C>T
ENST00000500728.2:c.751+9C>T ENSP00000421922.1:n.751+9C>T
ENST00000509198.1:n.806C>T
ENST00000515119.5:c.*528+9C>T ENSP00000421648.1:n.*528+9C>T
NM_002337.3:c.751+9C>T NP_002328.1:n.751+9C>T
NR_110005.1:n.714+9C>T
NM_002337.4:c.751+9C>T MANE Select NP_002328.1:n.751+9C>T
XR_002959730.1:n.845C>T
NR_110005.2:n.714+9C>T