Canonical Allele Identifier: CA1638540

Gene: LRPPRC

Linked Data

• dbSNP Id: rs372674252
• ExAC: 2:44172549 A / T
• gnomAD v2: 2-44172549-A-T
• gnomAD v3: 2-43945410-A-T
• gnomAD v4: 2-43945410-A-T
• MyVariant Identifiers: chr2:g.44172549A>T (hg19) ; chr2:g.43945410A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945410A>T , CM000664.2:g.43945410A>T	GRCh38
NC_000002.11:g.44172549A>T , CM000664.1:g.44172549A>T	GRCh37
NC_000002.10:g.44026053A>T	NCBI36
NG_008247.1:g.55596T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2218T>A	ENSP00000386562.2:p.Leu740Ile
ENST00000447246.2:c.2218T>A	ENSP00000403637.2:p.Leu740Ile
ENST00000681961.1:n.2238T>A
ENST00000682104.1:c.2092T>A	ENSP00000507716.1:p.Leu698Ile
ENST00000682303.1:c.*2082+703T>A	ENSP00000508325.1:n.*2082+703T>A
ENST00000682308.1:c.2218T>A	ENSP00000507056.1:p.Leu740Ile
ENST00000682480.1:c.2218T>A	ENSP00000508344.1:p.Leu740Ile
ENST00000682546.1:c.2215T>A	ENSP00000508188.1:p.Leu739Ile
ENST00000682585.1:c.2218T>A	ENSP00000506885.1:p.Leu740Ile
ENST00000682595.1:n.2800T>A
ENST00000682607.1:c.636T>A
ENST00000682779.1:c.2209T>A	ENSP00000507947.1:p.Leu737Ile
ENST00000682885.1:c.2173T>A	ENSP00000508036.1:p.Leu725Ile
ENST00000682933.1:n.2292T>A
ENST00000683072.1:n.2800T>A
ENST00000683125.1:c.2218T>A	ENSP00000507939.1:p.Leu740Ile
ENST00000683213.1:c.2221T>A	ENSP00000507751.1:p.Leu741Ile
ENST00000683220.1:c.2248T>A	ENSP00000507151.1:p.Leu750Ile
ENST00000683329.1:n.3021T>A
ENST00000683346.1:c.*2093T>A	ENSP00000507458.1:n.*2093T>A
ENST00000683459.1:n.2805T>A
ENST00000683590.1:c.2218T>A	ENSP00000506820.1:p.Leu740Ile
ENST00000683623.1:c.2218T>A	ENSP00000507702.1:p.Leu740Ile
ENST00000683645.1:n.2769T>A
ENST00000683694.1:n.969T>A
ENST00000683796.1:c.*2090T>A	ENSP00000508221.1:n.*2090T>A
ENST00000683802.1:n.5143T>A
ENST00000683833.1:c.2209T>A	ENSP00000506852.1:p.Leu737Ile
ENST00000683934.1:c.2104T>A
ENST00000683989.1:c.2218T>A	ENSP00000507510.1:p.Leu740Ile
ENST00000683994.1:c.2218T>A	ENSP00000507181.1:p.Leu740Ile
ENST00000684290.1:c.2210+703T>A	ENSP00000507243.1:n.2210+703T>A
ENST00000684306.1:c.*2131T>A	ENSP00000508384.1:n.*2131T>A
ENST00000684341.1:n.2238T>A
ENST00000684383.1:c.*1856T>A	ENSP00000506863.1:n.*1856T>A
ENST00000684619.1:c.*2090T>A	ENSP00000508088.1:n.*2090T>A
ENST00000684743.1:n.3249T>A
ENST00000260665.12:c.2218T>A MANE Select	ENSP00000260665.7:p.Leu740Ile
ENST00000260665.11:c.2218T>A	ENSP00000260665.7:p.Leu740Ile
NM_133259.3:c.2218T>A	NP_573566.2:p.Leu740Ile
XM_006711915.2:c.2140T>A	XP_006711978.1:p.Leu714Ile
XM_006711916.2:c.2218T>A	XP_006711979.1:p.Leu740Ile
XM_011532473.1:c.2218T>A	XP_011530775.1:p.Leu740Ile
XM_011532474.1:c.2218T>A	XP_011530776.1:p.Leu740Ile
XM_006711916.3:c.2218T>A	XP_006711979.1:p.Leu740Ile
XM_017003117.1:c.2140T>A	XP_016858606.1:p.Leu714Ile
XR_002958896.1:n.2260T>A
NM_133259.4:c.2218T>A MANE Select	NP_573566.2:p.Leu740Ile