Canonical Allele Identifier: CA2830213

Gene: LRPAP1

Linked Data

• ClinVar Variation Id: 755495
• ClinVar RCV Id: RCV000932925 ; RCV003942911
• dbSNP Id: rs374848233
• ExAC: 4:3534131 C / G
• gnomAD v2: 4-3534131-C-G
• gnomAD v3: 4-3532404-C-G
• gnomAD v4: 4-3532404-C-G
• MyVariant Identifiers: chr4:g.3534131C>G (hg19) ; chr4:g.3532404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3532404C>G , CM000666.2:g.3532404C>G	GRCh38
NC_000004.11:g.3534131C>G , CM000666.1:g.3534131C>G	GRCh37
NC_000004.10:g.3503929C>G	NCBI36
NG_033873.1:g.5094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648517.1:c.9G>C	ENSP00000496947.1:p.Pro3=
ENST00000650182.1:c.9G>C MANE Select	ENSP00000497444.1:p.Pro3=
ENST00000650633.1:n.43G>C
ENST00000500728.2:c.9G>C	ENSP00000421922.1:p.Pro3=
ENST00000509198.1:n.19G>C
ENST00000515119.5:c.9G>C	ENSP00000421648.1:p.Pro3=
NM_002337.3:c.9G>C	NP_002328.1:p.Pro3=
NM_002337.4:c.9G>C MANE Select	NP_002328.1:p.Pro3=
XR_002959730.1:n.94G>C