Canonical Allele Identifier: CA1638190

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2798434
• ClinVar RCV Id: RCV003675771
• dbSNP Id: rs778591085
• ExAC: 2:44145146 A / C
• gnomAD v2: 2-44145146-A-C
• gnomAD v3: 2-43918007-A-C
• gnomAD v4: 2-43918007-A-C
• MyVariant Identifiers: chr2:g.44145146A>C (hg19) ; chr2:g.43918007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918007A>C , CM000664.2:g.43918007A>C	GRCh38
NC_000002.11:g.44145146A>C , CM000664.1:g.44145146A>C	GRCh37
NC_000002.10:g.43998650A>C	NCBI36
NG_008247.1:g.82999T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700+18T>G
ENST00000682295.1:c.303+249T>G	ENSP00000507499.1:n.303+249T>G
ENST00000682303.1:c.*2934+18T>G	ENSP00000508325.1:n.*2934+18T>G
ENST00000682308.1:c.3148+18T>G	ENSP00000507056.1:n.3148+18T>G
ENST00000682480.1:c.3166+18T>G	ENSP00000508344.1:n.3166+18T>G
ENST00000682546.1:c.3145+18T>G	ENSP00000508188.1:n.3145+18T>G
ENST00000682585.1:c.3148+18T>G	ENSP00000506885.1:n.3148+18T>G
ENST00000682595.1:n.3732+18T>G
ENST00000682607.1:c.1566+18T>G
ENST00000682779.1:c.3139+18T>G	ENSP00000507947.1:n.3139+18T>G
ENST00000682845.1:n.2250+18T>G
ENST00000682885.1:c.3103+18T>G	ENSP00000508036.1:n.3103+18T>G
ENST00000682933.1:n.3222+18T>G
ENST00000683072.1:n.3732+18T>G
ENST00000683080.1:n.767+18T>G
ENST00000683125.1:c.3256+18T>G	ENSP00000507939.1:n.3256+18T>G
ENST00000683213.1:c.3151+18T>G	ENSP00000507751.1:n.3151+18T>G
ENST00000683220.1:c.3178+18T>G	ENSP00000507151.1:n.3178+18T>G
ENST00000683329.1:n.3951+18T>G
ENST00000683346.1:c.*3023+18T>G	ENSP00000507458.1:n.*3023+18T>G
ENST00000683409.1:n.1755+18T>G
ENST00000683459.1:n.3735+18T>G
ENST00000683590.1:c.2897-5449T>G	ENSP00000506820.1:n.2897-5449T>G
ENST00000683623.1:c.3055+18T>G	ENSP00000507702.1:n.3055+18T>G
ENST00000683645.1:n.3699+18T>G
ENST00000683796.1:c.*3020+18T>G	ENSP00000508221.1:n.*3020+18T>G
ENST00000683802.1:n.6073+18T>G
ENST00000683833.1:c.3139+18T>G	ENSP00000506852.1:n.3139+18T>G
ENST00000683994.1:c.3148+18T>G	ENSP00000507181.1:n.3148+18T>G
ENST00000684290.1:c.*684+18T>G	ENSP00000507243.1:n.*684+18T>G
ENST00000684306.1:c.*3061+18T>G	ENSP00000508384.1:n.*3061+18T>G
ENST00000684341.1:n.3168+18T>G
ENST00000684383.1:c.*2786+18T>G	ENSP00000506863.1:n.*2786+18T>G
ENST00000684619.1:c.*3020+18T>G	ENSP00000508088.1:n.*3020+18T>G
ENST00000684705.1:n.287T>G
ENST00000684743.1:n.4179+18T>G
ENST00000260665.12:c.3148+18T>G MANE Select	ENSP00000260665.7:n.3148+18T>G
ENST00000260665.11:c.3148+18T>G	ENSP00000260665.7:n.3148+18T>G
NM_133259.3:c.3148+18T>G	NP_573566.2:n.3148+18T>G
XM_006711915.2:c.3070+18T>G	XP_006711978.1:n.3070+18T>G
XM_006711916.2:c.3147+19T>G	XP_006711979.1:n.3147+19T>G
XM_011532473.1:c.3148+18T>G	XP_011530775.1:n.3148+18T>G
XM_011532474.1:c.3148+18T>G	XP_011530776.1:n.3148+18T>G
XM_006711916.3:c.3147+19T>G	XP_006711979.1:n.3147+19T>G
XM_017003117.1:c.3070+18T>G	XP_016858606.1:n.3070+18T>G
XR_002958896.1:n.3190+18T>G
NM_133259.4:c.3148+18T>G MANE Select	NP_573566.2:n.3148+18T>G