Canonical Allele Identifier: CA1638512

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1183795
• ClinVar RCV Id: RCV001541715 ; RCV001543272
• dbSNP Id: rs28394191
• ExAC: 2:44172444 A / C
• gnomAD v2: 2-44172444-A-C
• gnomAD v3: 2-43945305-A-C
• gnomAD v4: 2-43945305-A-C
• MyVariant Identifiers: chr2:g.44172444A>C (hg19) ; chr2:g.43945305A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945305A>C , CM000664.2:g.43945305A>C	GRCh38
NC_000002.11:g.44172444A>C , CM000664.1:g.44172444A>C	GRCh37
NC_000002.10:g.44025948A>C	NCBI36
NG_008247.1:g.55701T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2296+27T>G	ENSP00000386562.2:n.2296+27T>G
ENST00000447246.2:c.2296+27T>G	ENSP00000403637.2:n.2296+27T>G
ENST00000681961.1:n.2316+27T>G
ENST00000682104.1:c.2170+27T>G	ENSP00000507716.1:n.2170+27T>G
ENST00000682303.1:c.*2082+808T>G	ENSP00000508325.1:n.*2082+808T>G
ENST00000682308.1:c.2296+27T>G	ENSP00000507056.1:n.2296+27T>G
ENST00000682480.1:c.2296+27T>G	ENSP00000508344.1:n.2296+27T>G
ENST00000682546.1:c.2293+27T>G	ENSP00000508188.1:n.2293+27T>G
ENST00000682585.1:c.2296+27T>G	ENSP00000506885.1:n.2296+27T>G
ENST00000682595.1:n.2878+27T>G
ENST00000682607.1:c.714+27T>G
ENST00000682779.1:c.2287+27T>G	ENSP00000507947.1:n.2287+27T>G
ENST00000682885.1:c.2251+27T>G	ENSP00000508036.1:n.2251+27T>G
ENST00000682933.1:n.2370+27T>G
ENST00000683072.1:n.2878+27T>G
ENST00000683125.1:c.2296+27T>G	ENSP00000507939.1:n.2296+27T>G
ENST00000683213.1:c.2299+27T>G	ENSP00000507751.1:n.2299+27T>G
ENST00000683220.1:c.2326+27T>G	ENSP00000507151.1:n.2326+27T>G
ENST00000683329.1:n.3099+27T>G
ENST00000683346.1:c.*2171+27T>G	ENSP00000507458.1:n.*2171+27T>G
ENST00000683459.1:n.2883+27T>G
ENST00000683590.1:c.2296+27T>G	ENSP00000506820.1:n.2296+27T>G
ENST00000683623.1:c.2296+27T>G	ENSP00000507702.1:n.2296+27T>G
ENST00000683645.1:n.2847+27T>G
ENST00000683694.1:n.1047+27T>G
ENST00000683796.1:c.*2168+27T>G	ENSP00000508221.1:n.*2168+27T>G
ENST00000683802.1:n.5221+27T>G
ENST00000683833.1:c.2287+27T>G	ENSP00000506852.1:n.2287+27T>G
ENST00000683989.1:c.2296+27T>G	ENSP00000507510.1:n.2296+27T>G
ENST00000683994.1:c.2296+27T>G	ENSP00000507181.1:n.2296+27T>G
ENST00000684290.1:c.2210+808T>G	ENSP00000507243.1:n.2210+808T>G
ENST00000684306.1:c.*2209+27T>G	ENSP00000508384.1:n.*2209+27T>G
ENST00000684341.1:n.2316+27T>G
ENST00000684383.1:c.*1934+27T>G	ENSP00000506863.1:n.*1934+27T>G
ENST00000684619.1:c.*2168+27T>G	ENSP00000508088.1:n.*2168+27T>G
ENST00000684743.1:n.3327+27T>G
ENST00000260665.12:c.2296+27T>G MANE Select	ENSP00000260665.7:n.2296+27T>G
ENST00000260665.11:c.2296+27T>G	ENSP00000260665.7:n.2296+27T>G
NM_133259.3:c.2296+27T>G	NP_573566.2:n.2296+27T>G
XM_006711915.2:c.2218+27T>G	XP_006711978.1:n.2218+27T>G
XM_006711916.2:c.2296+27T>G	XP_006711979.1:n.2296+27T>G
XM_011532473.1:c.2296+27T>G	XP_011530775.1:n.2296+27T>G
XM_011532474.1:c.2296+27T>G	XP_011530776.1:n.2296+27T>G
XM_006711916.3:c.2296+27T>G	XP_006711979.1:n.2296+27T>G
XM_017003117.1:c.2218+27T>G	XP_016858606.1:n.2218+27T>G
XR_002958896.1:n.2338+27T>G
NM_133259.4:c.2296+27T>G MANE Select	NP_573566.2:n.2296+27T>G