Canonical Allele Identifier: CA356112783

Gene: LRPAP1

Linked Data

• dbSNP Id: rs1367440174
• gnomAD v4: 4-3518055-G-A
• MyVariant Identifiers: chr4:g.3519782G>A (hg19) ; chr4:g.3518055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3518055G>A , CM000666.2:g.3518055G>A	GRCh38
NC_000004.11:g.3519782G>A , CM000666.1:g.3519782G>A	GRCh37
NC_000004.10:g.3489580G>A	NCBI36
NG_033873.1:g.19443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648517.1:c.730C>T	ENSP00000496947.1:p.Gln244Ter
ENST00000650182.1:c.730C>T MANE Select	ENSP00000497444.1:p.Gln244Ter
ENST00000296325.9:n.693C>T
ENST00000500728.2:c.730C>T	ENSP00000421922.1:p.Gln244Ter
ENST00000509198.1:n.776C>T
ENST00000515119.5:c.*507C>T	ENSP00000421648.1:n.*507C>T
NM_002337.3:c.730C>T	NP_002328.1:p.Gln244Ter
NR_110005.1:n.693C>T
NM_002337.4:c.730C>T MANE Select	NP_002328.1:p.Gln244Ter
XR_002959730.1:n.815C>T
NR_110005.2:n.693C>T