Canonical Allele Identifier: CA2829874

Gene: LRPAP1

Linked Data

• dbSNP Id: rs370957737
• ExAC: 4:3519774 G / A
• gnomAD v2: 4-3519774-G-A
• gnomAD v3: 4-3518047-G-A
• gnomAD v4: 4-3518047-G-A
• MyVariant Identifiers: chr4:g.3519774G>A (hg19) ; chr4:g.3518047G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648517.1:c.738C>T	ENSP00000496947.1:p.Tyr246=
ENST00000650182.1:c.738C>T MANE Select	ENSP00000497444.1:p.Tyr246=
ENST00000296325.9:n.701C>T
ENST00000500728.2:c.738C>T	ENSP00000421922.1:p.Tyr246=
ENST00000509198.1:n.784C>T
ENST00000515119.5:c.*515C>T	ENSP00000421648.1:n.*515C>T
NM_002337.3:c.738C>T	NP_002328.1:p.Tyr246=
NR_110005.1:n.701C>T
NM_002337.4:c.738C>T MANE Select	NP_002328.1:p.Tyr246=
XR_002959730.1:n.823C>T
NR_110005.2:n.701C>T