Canonical Allele Identifier: CA356112862
Gene: LRPAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3518094T>G , CM000666.2:g.3518094T>G GRCh38
NC_000004.11:g.3519821T>G , CM000666.1:g.3519821T>G GRCh37
NC_000004.10:g.3489619T>G NCBI36
NG_033873.1:g.19404A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648517.1:c.691A>C ENSP00000496947.1:p.Ile231Leu
ENST00000650182.1:c.691A>C MANE Select ENSP00000497444.1:p.Ile231Leu
ENST00000296325.9:n.654A>C
ENST00000500728.2:c.691A>C ENSP00000421922.1:p.Ile231Leu
ENST00000509198.1:n.737A>C
ENST00000515119.5:c.*468A>C ENSP00000421648.1:n.*468A>C
NM_002337.3:c.691A>C NP_002328.1:p.Ile231Leu
NR_110005.1:n.654A>C
NM_002337.4:c.691A>C MANE Select NP_002328.1:p.Ile231Leu
XR_002959730.1:n.776A>C
NR_110005.2:n.654A>C