Canonical Allele Identifier: CA2739270923

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2828852
• ClinVar RCV Id: RCV003686116

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918151T>G , CM000664.2:g.43918151T>G	GRCh38
NC_000002.11:g.44145290T>G , CM000664.1:g.44145290T>G	GRCh37
NC_000002.10:g.43998794T>G	NCBI36
NG_008247.1:g.82855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.592-18A>C
ENST00000682295.1:c.303+105A>C	ENSP00000507499.1:n.303+105A>C
ENST00000682303.1:c.*2826-18A>C	ENSP00000508325.1:n.*2826-18A>C
ENST00000682308.1:c.3040-18A>C	ENSP00000507056.1:n.3040-18A>C
ENST00000682480.1:c.3040A>C	ENSP00000508344.1:p.Asn1014His
ENST00000682546.1:c.3037-18A>C	ENSP00000508188.1:n.3037-18A>C
ENST00000682585.1:c.3040-18A>C	ENSP00000506885.1:n.3040-18A>C
ENST00000682595.1:n.3624-18A>C
ENST00000682607.1:c.1458-18A>C
ENST00000682779.1:c.3031-18A>C	ENSP00000507947.1:n.3031-18A>C
ENST00000682845.1:n.2142-18A>C
ENST00000682885.1:c.2995-18A>C	ENSP00000508036.1:n.2995-18A>C
ENST00000682933.1:n.3114-18A>C
ENST00000683072.1:n.3624-18A>C
ENST00000683080.1:n.659-18A>C
ENST00000683125.1:c.3148-18A>C	ENSP00000507939.1:n.3148-18A>C
ENST00000683213.1:c.3043-18A>C	ENSP00000507751.1:n.3043-18A>C
ENST00000683220.1:c.3070-18A>C	ENSP00000507151.1:n.3070-18A>C
ENST00000683329.1:n.3843-18A>C
ENST00000683346.1:c.*2915-18A>C	ENSP00000507458.1:n.*2915-18A>C
ENST00000683409.1:n.1647-18A>C
ENST00000683459.1:n.3627-18A>C
ENST00000683590.1:c.2897-5593A>C	ENSP00000506820.1:n.2897-5593A>C
ENST00000683623.1:c.2947-18A>C	ENSP00000507702.1:n.2947-18A>C
ENST00000683645.1:n.3591-18A>C
ENST00000683796.1:c.*2912-18A>C	ENSP00000508221.1:n.*2912-18A>C
ENST00000683802.1:n.5965-18A>C
ENST00000683833.1:c.3031-18A>C	ENSP00000506852.1:n.3031-18A>C
ENST00000683994.1:c.3040-18A>C	ENSP00000507181.1:n.3040-18A>C
ENST00000684290.1:c.*576-18A>C	ENSP00000507243.1:n.*576-18A>C
ENST00000684306.1:c.*2953-18A>C	ENSP00000508384.1:n.*2953-18A>C
ENST00000684341.1:n.3060-18A>C
ENST00000684383.1:c.*2678-18A>C	ENSP00000506863.1:n.*2678-18A>C
ENST00000684619.1:c.*2912-18A>C	ENSP00000508088.1:n.*2912-18A>C
ENST00000684705.1:n.161-18A>C
ENST00000684743.1:n.4071-18A>C
ENST00000260665.12:c.3040-18A>C MANE Select	ENSP00000260665.7:n.3040-18A>C
ENST00000260665.11:c.3040-18A>C	ENSP00000260665.7:n.3040-18A>C
NM_133259.3:c.3040-18A>C	NP_573566.2:n.3040-18A>C
XM_006711915.2:c.2962-18A>C	XP_006711978.1:n.2962-18A>C
XM_006711916.2:c.3040-18A>C	XP_006711979.1:n.3040-18A>C
XM_011532473.1:c.3040-18A>C	XP_011530775.1:n.3040-18A>C
XM_011532474.1:c.3040-18A>C	XP_011530776.1:n.3040-18A>C
XM_006711916.3:c.3040-18A>C	XP_006711979.1:n.3040-18A>C
XM_017003117.1:c.2962-18A>C	XP_016858606.1:n.2962-18A>C
XR_002958896.1:n.3082-18A>C
NM_133259.4:c.3040-18A>C MANE Select	NP_573566.2:n.3040-18A>C