Canonical Allele Identifier: CA1638518

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2886832
• ClinVar RCV Id: RCV003722110
• dbSNP Id: rs533220652
• ExAC: 2:44172458 T / G
• gnomAD v2: 2-44172458-T-G
• gnomAD v3: 2-43945319-T-G
• gnomAD v4: 2-43945319-T-G
• MyVariant Identifiers: chr2:g.44172458T>G (hg19) ; chr2:g.43945319T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945319T>G , CM000664.2:g.43945319T>G	GRCh38
NC_000002.11:g.44172458T>G , CM000664.1:g.44172458T>G	GRCh37
NC_000002.10:g.44025962T>G	NCBI36
NG_008247.1:g.55687A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2296+13A>C	ENSP00000386562.2:n.2296+13A>C
ENST00000447246.2:c.2296+13A>C	ENSP00000403637.2:n.2296+13A>C
ENST00000681961.1:n.2316+13A>C
ENST00000682104.1:c.2170+13A>C	ENSP00000507716.1:n.2170+13A>C
ENST00000682303.1:c.*2082+794A>C	ENSP00000508325.1:n.*2082+794A>C
ENST00000682308.1:c.2296+13A>C	ENSP00000507056.1:n.2296+13A>C
ENST00000682480.1:c.2296+13A>C	ENSP00000508344.1:n.2296+13A>C
ENST00000682546.1:c.2293+13A>C	ENSP00000508188.1:n.2293+13A>C
ENST00000682585.1:c.2296+13A>C	ENSP00000506885.1:n.2296+13A>C
ENST00000682595.1:n.2878+13A>C
ENST00000682607.1:c.714+13A>C
ENST00000682779.1:c.2287+13A>C	ENSP00000507947.1:n.2287+13A>C
ENST00000682885.1:c.2251+13A>C	ENSP00000508036.1:n.2251+13A>C
ENST00000682933.1:n.2370+13A>C
ENST00000683072.1:n.2878+13A>C
ENST00000683125.1:c.2296+13A>C	ENSP00000507939.1:n.2296+13A>C
ENST00000683213.1:c.2299+13A>C	ENSP00000507751.1:n.2299+13A>C
ENST00000683220.1:c.2326+13A>C	ENSP00000507151.1:n.2326+13A>C
ENST00000683329.1:n.3099+13A>C
ENST00000683346.1:c.*2171+13A>C	ENSP00000507458.1:n.*2171+13A>C
ENST00000683459.1:n.2883+13A>C
ENST00000683590.1:c.2296+13A>C	ENSP00000506820.1:n.2296+13A>C
ENST00000683623.1:c.2296+13A>C	ENSP00000507702.1:n.2296+13A>C
ENST00000683645.1:n.2847+13A>C
ENST00000683694.1:n.1047+13A>C
ENST00000683796.1:c.*2168+13A>C	ENSP00000508221.1:n.*2168+13A>C
ENST00000683802.1:n.5221+13A>C
ENST00000683833.1:c.2287+13A>C	ENSP00000506852.1:n.2287+13A>C
ENST00000683989.1:c.2296+13A>C	ENSP00000507510.1:n.2296+13A>C
ENST00000683994.1:c.2296+13A>C	ENSP00000507181.1:n.2296+13A>C
ENST00000684290.1:c.2210+794A>C	ENSP00000507243.1:n.2210+794A>C
ENST00000684306.1:c.*2209+13A>C	ENSP00000508384.1:n.*2209+13A>C
ENST00000684341.1:n.2316+13A>C
ENST00000684383.1:c.*1934+13A>C	ENSP00000506863.1:n.*1934+13A>C
ENST00000684619.1:c.*2168+13A>C	ENSP00000508088.1:n.*2168+13A>C
ENST00000684743.1:n.3327+13A>C
ENST00000260665.12:c.2296+13A>C MANE Select	ENSP00000260665.7:n.2296+13A>C
ENST00000260665.11:c.2296+13A>C	ENSP00000260665.7:n.2296+13A>C
NM_133259.3:c.2296+13A>C	NP_573566.2:n.2296+13A>C
XM_006711915.2:c.2218+13A>C	XP_006711978.1:n.2218+13A>C
XM_006711916.2:c.2296+13A>C	XP_006711979.1:n.2296+13A>C
XM_011532473.1:c.2296+13A>C	XP_011530775.1:n.2296+13A>C
XM_011532474.1:c.2296+13A>C	XP_011530776.1:n.2296+13A>C
XM_006711916.3:c.2296+13A>C	XP_006711979.1:n.2296+13A>C
XM_017003117.1:c.2218+13A>C	XP_016858606.1:n.2218+13A>C
XR_002958896.1:n.2338+13A>C
NM_133259.4:c.2296+13A>C MANE Select	NP_573566.2:n.2296+13A>C