Canonical Allele Identifier: CA356112846

Gene: LRPAP1

Linked Data

• dbSNP Id: rs1386681360
• gnomAD v3: 4-3518087-T-G
• gnomAD v4: 4-3518087-T-G
• MyVariant Identifiers: chr4:g.3519814T>G (hg19) ; chr4:g.3518087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3518087T>G , CM000666.2:g.3518087T>G	GRCh38
NC_000004.11:g.3519814T>G , CM000666.1:g.3519814T>G	GRCh37
NC_000004.10:g.3489612T>G	NCBI36
NG_033873.1:g.19411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648517.1:c.698A>C	ENSP00000496947.1:p.Gln233Pro
ENST00000650182.1:c.698A>C MANE Select	ENSP00000497444.1:p.Gln233Pro
ENST00000296325.9:n.661A>C
ENST00000500728.2:c.698A>C	ENSP00000421922.1:p.Gln233Pro
ENST00000509198.1:n.744A>C
ENST00000515119.5:c.*475A>C	ENSP00000421648.1:n.*475A>C
NM_002337.3:c.698A>C	NP_002328.1:p.Gln233Pro
NR_110005.1:n.661A>C
NM_002337.4:c.698A>C MANE Select	NP_002328.1:p.Gln233Pro
XR_002959730.1:n.783A>C
NR_110005.2:n.661A>C