Canonical Allele Identifier: CA346668003

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145196A>T (hg19) ; chr2:g.43918057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918057A>T , CM000664.2:g.43918057A>T	GRCh38
NC_000002.11:g.44145196A>T , CM000664.1:g.44145196A>T	GRCh37
NC_000002.10:g.43998700A>T	NCBI36
NG_008247.1:g.82949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.668T>A
ENST00000682295.1:c.303+199T>A	ENSP00000507499.1:n.303+199T>A
ENST00000682303.1:c.*2902T>A	ENSP00000508325.1:n.*2902T>A
ENST00000682308.1:c.3116T>A	ENSP00000507056.1:p.Ile1039Lys
ENST00000682480.1:c.3134T>A	ENSP00000508344.1:p.Ile1045Lys
ENST00000682546.1:c.3113T>A	ENSP00000508188.1:p.Ile1038Lys
ENST00000682585.1:c.3116T>A	ENSP00000506885.1:p.Ile1039Lys
ENST00000682595.1:n.3700T>A
ENST00000682607.1:c.1534T>A
ENST00000682779.1:c.3107T>A	ENSP00000507947.1:p.Ile1036Lys
ENST00000682845.1:n.2218T>A
ENST00000682885.1:c.3071T>A	ENSP00000508036.1:p.Ile1024Lys
ENST00000682933.1:n.3190T>A
ENST00000683072.1:n.3700T>A
ENST00000683080.1:n.735T>A
ENST00000683125.1:c.3224T>A	ENSP00000507939.1:p.Ile1075Lys
ENST00000683213.1:c.3119T>A	ENSP00000507751.1:p.Ile1040Lys
ENST00000683220.1:c.3146T>A	ENSP00000507151.1:p.Ile1049Lys
ENST00000683329.1:n.3919T>A
ENST00000683346.1:c.*2991T>A	ENSP00000507458.1:n.*2991T>A
ENST00000683409.1:n.1723T>A
ENST00000683459.1:n.3703T>A
ENST00000683590.1:c.2897-5499T>A	ENSP00000506820.1:n.2897-5499T>A
ENST00000683623.1:c.3023T>A	ENSP00000507702.1:p.Ile1008Lys
ENST00000683645.1:n.3667T>A
ENST00000683796.1:c.*2988T>A	ENSP00000508221.1:n.*2988T>A
ENST00000683802.1:n.6041T>A
ENST00000683833.1:c.3107T>A	ENSP00000506852.1:p.Ile1036Lys
ENST00000683994.1:c.3116T>A	ENSP00000507181.1:p.Ile1039Lys
ENST00000684290.1:c.*652T>A	ENSP00000507243.1:n.*652T>A
ENST00000684306.1:c.*3029T>A	ENSP00000508384.1:n.*3029T>A
ENST00000684341.1:n.3136T>A
ENST00000684383.1:c.*2754T>A	ENSP00000506863.1:n.*2754T>A
ENST00000684619.1:c.*2988T>A	ENSP00000508088.1:n.*2988T>A
ENST00000684705.1:n.237T>A
ENST00000684743.1:n.4147T>A
ENST00000260665.12:c.3116T>A MANE Select	ENSP00000260665.7:p.Ile1039Lys
ENST00000260665.11:c.3116T>A	ENSP00000260665.7:p.Ile1039Lys
NM_133259.3:c.3116T>A	NP_573566.2:p.Ile1039Lys
XM_006711915.2:c.3038T>A	XP_006711978.1:p.Ile1013Lys
XM_006711916.2:c.3116T>A	XP_006711979.1:p.Ile1039Lys
XM_011532473.1:c.3116T>A	XP_011530775.1:p.Ile1039Lys
XM_011532474.1:c.3116T>A	XP_011530776.1:p.Ile1039Lys
XM_006711916.3:c.3116T>A	XP_006711979.1:p.Ile1039Lys
XM_017003117.1:c.3038T>A	XP_016858606.1:p.Ile1013Lys
XR_002958896.1:n.3158T>A
NM_133259.4:c.3116T>A MANE Select	NP_573566.2:p.Ile1039Lys