Canonical Allele Identifier: CA1638693

Gene: LRPPRC

Linked Data

• dbSNP Id: rs762210835
• ExAC: 2:44175306 G / A
• gnomAD v2: 2-44175306-G-A
• gnomAD v3: 2-43948167-G-A
• gnomAD v4: 2-43948167-G-A
• MyVariant Identifiers: chr2:g.44175306G>A (hg19) ; chr2:g.43948167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948167G>A , CM000664.2:g.43948167G>A	GRCh38
NC_000002.11:g.44175306G>A , CM000664.1:g.44175306G>A	GRCh37
NC_000002.10:g.44028810G>A	NCBI36
NG_008247.1:g.52839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1875C>T	ENSP00000386562.2:p.Gly625=
ENST00000447246.2:c.1875C>T	ENSP00000403637.2:p.Gly625=
ENST00000467058.2:n.604C>T
ENST00000681959.1:n.1489C>T
ENST00000681961.1:n.1895C>T
ENST00000682104.1:c.1749C>T	ENSP00000507716.1:p.Gly583=
ENST00000682303.1:c.*1747C>T	ENSP00000508325.1:n.*1747C>T
ENST00000682308.1:c.1875C>T	ENSP00000507056.1:p.Gly625=
ENST00000682480.1:c.1875C>T	ENSP00000508344.1:p.Gly625=
ENST00000682546.1:c.1872C>T	ENSP00000508188.1:p.Gly624=
ENST00000682585.1:c.1875C>T	ENSP00000506885.1:p.Gly625=
ENST00000682595.1:n.2457C>T
ENST00000682607.1:c.293C>T
ENST00000682779.1:c.1866C>T	ENSP00000507947.1:p.Gly622=
ENST00000682885.1:c.1875C>T	ENSP00000508036.1:p.Gly625=
ENST00000682933.1:n.1949C>T
ENST00000683072.1:n.2457C>T
ENST00000683082.1:n.1893C>T
ENST00000683125.1:c.1875C>T	ENSP00000507939.1:p.Gly625=
ENST00000683213.1:c.1878C>T	ENSP00000507751.1:p.Gly626=
ENST00000683220.1:c.1905C>T	ENSP00000507151.1:p.Gly635=
ENST00000683329.1:n.2678C>T
ENST00000683346.1:c.*1750C>T	ENSP00000507458.1:n.*1750C>T
ENST00000683459.1:n.2462C>T
ENST00000683590.1:c.1875C>T	ENSP00000506820.1:p.Gly625=
ENST00000683623.1:c.1875C>T	ENSP00000507702.1:p.Gly625=
ENST00000683645.1:n.2426C>T
ENST00000683694.1:n.626C>T
ENST00000683796.1:c.*1747C>T	ENSP00000508221.1:n.*1747C>T
ENST00000683802.1:n.4800C>T
ENST00000683833.1:c.1866C>T	ENSP00000506852.1:p.Gly622=
ENST00000683934.1:c.1761C>T
ENST00000683989.1:c.1875C>T	ENSP00000507510.1:p.Gly625=
ENST00000683994.1:c.1875C>T	ENSP00000507181.1:p.Gly625=
ENST00000684290.1:c.1875C>T	ENSP00000507243.1:p.Gly625=
ENST00000684306.1:c.*1788C>T	ENSP00000508384.1:n.*1788C>T
ENST00000684341.1:n.1895C>T
ENST00000684383.1:c.*1513C>T	ENSP00000506863.1:n.*1513C>T
ENST00000684482.1:c.4344C>T
ENST00000684619.1:c.*1747C>T	ENSP00000508088.1:n.*1747C>T
ENST00000684743.1:n.2906C>T
ENST00000260665.12:c.1875C>T MANE Select	ENSP00000260665.7:p.Gly625=
ENST00000260665.11:c.1875C>T	ENSP00000260665.7:p.Gly625=
NM_133259.3:c.1875C>T	NP_573566.2:p.Gly625=
XM_006711915.2:c.1797C>T	XP_006711978.1:p.Gly599=
XM_006711916.2:c.1875C>T	XP_006711979.1:p.Gly625=
XM_011532473.1:c.1875C>T	XP_011530775.1:p.Gly625=
XM_011532474.1:c.1875C>T	XP_011530776.1:p.Gly625=
XM_006711916.3:c.1875C>T	XP_006711979.1:p.Gly625=
XM_017003117.1:c.1797C>T	XP_016858606.1:p.Gly599=
XR_002958896.1:n.1917C>T
NM_133259.4:c.1875C>T MANE Select	NP_573566.2:p.Gly625=