Canonical Allele Identifier: CA2829855
Gene: LRPAP1 HGNC NCBI

Linked Data

dbSNP Id: rs371391183
gnomAD v2: 4-3519718-C-T
gnomAD v3: 4-3517991-C-T
gnomAD v4: 4-3517991-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3517991C>T , CM000666.2:g.3517991C>T GRCh38
NC_000004.11:g.3519718C>T , CM000666.1:g.3519718C>T GRCh37
NC_000004.10:g.3489516C>T NCBI36
NG_033873.1:g.19507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648517.1:c.751+43G>A ENSP00000496947.1:n.751+43G>A
ENST00000650182.1:c.751+43G>A MANE Select ENSP00000497444.1:n.751+43G>A
ENST00000296325.9:n.714+43G>A
ENST00000500728.2:c.751+43G>A ENSP00000421922.1:n.751+43G>A
ENST00000509198.1:n.840G>A
ENST00000515119.5:c.*528+43G>A ENSP00000421648.1:n.*528+43G>A
NM_002337.3:c.751+43G>A NP_002328.1:n.751+43G>A
NR_110005.1:n.714+43G>A
NM_002337.4:c.751+43G>A MANE Select NP_002328.1:n.751+43G>A
XR_002959730.1:n.879G>A
NR_110005.2:n.714+43G>A