Canonical Allele Identifier: CA356112765
Gene: LRPAP1 HGNC NCBI

Linked Data

gnomAD v4: 4-3518047-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3518047G>C , CM000666.2:g.3518047G>C GRCh38
NC_000004.11:g.3519774G>C , CM000666.1:g.3519774G>C GRCh37
NC_000004.10:g.3489572G>C NCBI36
NG_033873.1:g.19451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648517.1:c.738C>G ENSP00000496947.1:p.Tyr246Ter
ENST00000650182.1:c.738C>G MANE Select ENSP00000497444.1:p.Tyr246Ter
ENST00000296325.9:n.701C>G
ENST00000500728.2:c.738C>G ENSP00000421922.1:p.Tyr246Ter
ENST00000509198.1:n.784C>G
ENST00000515119.5:c.*515C>G ENSP00000421648.1:n.*515C>G
NM_002337.3:c.738C>G NP_002328.1:p.Tyr246Ter
NR_110005.1:n.701C>G
NM_002337.4:c.738C>G MANE Select NP_002328.1:p.Tyr246Ter
XR_002959730.1:n.823C>G
NR_110005.2:n.701C>G