Canonical Allele Identifier: CA425908476

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2735560
• ClinVar RCV Id: RCV003557581
• MyVariant Identifiers: chr2:g.44145198A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918059A>G , CM000664.2:g.43918059A>G	GRCh38
NC_000002.11:g.44145198A>G , CM000664.1:g.44145198A>G	GRCh37
NC_000002.10:g.43998702A>G	NCBI36
NG_008247.1:g.82947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.666T>C
ENST00000682295.1:c.303+197T>C	ENSP00000507499.1:n.303+197T>C
ENST00000682303.1:c.*2900T>C	ENSP00000508325.1:n.*2900T>C
ENST00000682308.1:c.3114T>C	ENSP00000507056.1:p.Asp1038=
ENST00000682480.1:c.3132T>C	ENSP00000508344.1:p.Asp1044=
ENST00000682546.1:c.3111T>C	ENSP00000508188.1:p.Asp1037=
ENST00000682585.1:c.3114T>C	ENSP00000506885.1:p.Asp1038=
ENST00000682595.1:n.3698T>C
ENST00000682607.1:c.1532T>C
ENST00000682779.1:c.3105T>C	ENSP00000507947.1:p.Asp1035=
ENST00000682845.1:n.2216T>C
ENST00000682885.1:c.3069T>C	ENSP00000508036.1:p.Asp1023=
ENST00000682933.1:n.3188T>C
ENST00000683072.1:n.3698T>C
ENST00000683080.1:n.733T>C
ENST00000683125.1:c.3222T>C	ENSP00000507939.1:p.Asp1074=
ENST00000683213.1:c.3117T>C	ENSP00000507751.1:p.Asp1039=
ENST00000683220.1:c.3144T>C	ENSP00000507151.1:p.Asp1048=
ENST00000683329.1:n.3917T>C
ENST00000683346.1:c.*2989T>C	ENSP00000507458.1:n.*2989T>C
ENST00000683409.1:n.1721T>C
ENST00000683459.1:n.3701T>C
ENST00000683590.1:c.2897-5501T>C	ENSP00000506820.1:n.2897-5501T>C
ENST00000683623.1:c.3021T>C	ENSP00000507702.1:p.Asp1007=
ENST00000683645.1:n.3665T>C
ENST00000683796.1:c.*2986T>C	ENSP00000508221.1:n.*2986T>C
ENST00000683802.1:n.6039T>C
ENST00000683833.1:c.3105T>C	ENSP00000506852.1:p.Asp1035=
ENST00000683994.1:c.3114T>C	ENSP00000507181.1:p.Asp1038=
ENST00000684290.1:c.*650T>C	ENSP00000507243.1:n.*650T>C
ENST00000684306.1:c.*3027T>C	ENSP00000508384.1:n.*3027T>C
ENST00000684341.1:n.3134T>C
ENST00000684383.1:c.*2752T>C	ENSP00000506863.1:n.*2752T>C
ENST00000684619.1:c.*2986T>C	ENSP00000508088.1:n.*2986T>C
ENST00000684705.1:n.235T>C
ENST00000684743.1:n.4145T>C
ENST00000260665.12:c.3114T>C MANE Select	ENSP00000260665.7:p.Asp1038=
ENST00000260665.11:c.3114T>C	ENSP00000260665.7:p.Asp1038=
NM_133259.3:c.3114T>C	NP_573566.2:p.Asp1038=
XM_006711915.2:c.3036T>C	XP_006711978.1:p.Asp1012=
XM_006711916.2:c.3114T>C	XP_006711979.1:p.Asp1038=
XM_011532473.1:c.3114T>C	XP_011530775.1:p.Asp1038=
XM_011532474.1:c.3114T>C	XP_011530776.1:p.Asp1038=
XM_006711916.3:c.3114T>C	XP_006711979.1:p.Asp1038=
XM_017003117.1:c.3036T>C	XP_016858606.1:p.Asp1012=
XR_002958896.1:n.3156T>C
NM_133259.4:c.3114T>C MANE Select	NP_573566.2:p.Asp1038=