Canonical Allele Identifier: CA10615260

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 336134
• ClinVar RCV Id: RCV000346109
• dbSNP Id: rs886056050
• gnomAD v4: 2-43888010-G-A
• MyVariant Identifiers: chr2:g.44115149G>A (hg19) ; chr2:g.43888010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43888010G>A , CM000664.2:g.43888010G>A	GRCh38
NC_000002.11:g.44115149G>A , CM000664.1:g.44115149G>A	GRCh37
NC_000002.10:g.43968653G>A	NCBI36
NG_008247.1:g.112996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.2327C>T
ENST00000682154.1:n.2209C>T
ENST00000682308.1:c.*590C>T	ENSP00000507056.1:n.*590C>T
ENST00000682353.1:n.3260C>T
ENST00000682546.1:c.*590C>T	ENSP00000508188.1:n.*590C>T
ENST00000682585.1:c.*903C>T	ENSP00000506885.1:n.*903C>T
ENST00000682607.1:c.3518C>T
ENST00000682612.1:c.1542C>T
ENST00000682696.1:c.927C>T	ENSP00000508411.1:n.927C>T
ENST00000683002.1:c.1767C>T
ENST00000683080.1:n.2394C>T
ENST00000683125.1:c.*590C>T	ENSP00000507939.1:n.*590C>T
ENST00000683213.1:c.*590C>T	ENSP00000507751.1:n.*590C>T
ENST00000683220.1:c.*590C>T	ENSP00000507151.1:n.*590C>T
ENST00000683409.1:n.3307C>T
ENST00000683459.1:n.5362C>T
ENST00000683590.1:c.*590C>T	ENSP00000506820.1:n.*590C>T
ENST00000683623.1:c.*590C>T	ENSP00000507702.1:n.*590C>T
ENST00000683796.1:c.*4572C>T	ENSP00000508221.1:n.*4572C>T
ENST00000683833.1:c.*590C>T	ENSP00000506852.1:n.*590C>T
ENST00000683994.1:c.*888C>T	ENSP00000507181.1:n.*888C>T
ENST00000684306.1:c.*4688C>T	ENSP00000508384.1:n.*4688C>T
ENST00000684418.1:n.5956C>T
ENST00000684454.1:n.8639C>T
ENST00000684619.1:c.*4647C>T	ENSP00000508088.1:n.*4647C>T
ENST00000260665.12:c.*590C>T MANE Select	ENSP00000260665.7:n.*590C>T
ENST00000260665.11:c.*590C>T	ENSP00000260665.7:n.*590C>T
NM_133259.3:c.*590C>T	NP_573566.2:n.*590C>T
XM_006711915.2:c.*590C>T	XP_006711978.1:n.*590C>T
XM_011532473.1:c.*590C>T	XP_011530775.1:n.*590C>T
XM_017003117.1:c.*590C>T	XP_016858606.1:n.*590C>T
XR_002958896.1:n.4957C>T
NM_133259.4:c.*590C>T MANE Select	NP_573566.2:n.*590C>T