Canonical Allele Identifier: CA1638493

Gene: LRPPRC

Linked Data

• dbSNP Id: rs761136204
• ExAC: 2:44171053 A / G
• gnomAD v2: 2-44171053-A-G
• MyVariant Identifiers: chr2:g.44171053A>G (hg19) ; chr2:g.43943914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943914A>G , CM000664.2:g.43943914A>G	GRCh38
NC_000002.11:g.44171053A>G , CM000664.1:g.44171053A>G	GRCh37
NC_000002.10:g.44024557A>G	NCBI36
NG_008247.1:g.57092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2297-20T>C	ENSP00000386562.2:n.2297-20T>C
ENST00000447246.2:c.2297-20T>C	ENSP00000403637.2:n.2297-20T>C
ENST00000681961.1:n.2317-20T>C
ENST00000682104.1:c.2171-20T>C	ENSP00000507716.1:n.2171-20T>C
ENST00000682303.1:c.*2083-20T>C	ENSP00000508325.1:n.*2083-20T>C
ENST00000682308.1:c.2297-20T>C	ENSP00000507056.1:n.2297-20T>C
ENST00000682480.1:c.2297-20T>C	ENSP00000508344.1:n.2297-20T>C
ENST00000682546.1:c.2294-20T>C	ENSP00000508188.1:n.2294-20T>C
ENST00000682585.1:c.2297-20T>C	ENSP00000506885.1:n.2297-20T>C
ENST00000682595.1:n.2879-20T>C
ENST00000682607.1:c.715-20T>C
ENST00000682779.1:c.2288-20T>C	ENSP00000507947.1:n.2288-20T>C
ENST00000682845.1:n.1379T>C
ENST00000682885.1:c.2252-20T>C	ENSP00000508036.1:n.2252-20T>C
ENST00000682933.1:n.2371-20T>C
ENST00000683072.1:n.2879-20T>C
ENST00000683125.1:c.2297-20T>C	ENSP00000507939.1:n.2297-20T>C
ENST00000683213.1:c.2300-20T>C	ENSP00000507751.1:n.2300-20T>C
ENST00000683220.1:c.2327-20T>C	ENSP00000507151.1:n.2327-20T>C
ENST00000683329.1:n.3100-20T>C
ENST00000683346.1:c.*2172-20T>C	ENSP00000507458.1:n.*2172-20T>C
ENST00000683459.1:n.2884-20T>C
ENST00000683590.1:c.2297-20T>C	ENSP00000506820.1:n.2297-20T>C
ENST00000683623.1:c.2297-113T>C	ENSP00000507702.1:n.2297-113T>C
ENST00000683645.1:n.2848-20T>C
ENST00000683694.1:n.1048-20T>C
ENST00000683796.1:c.*2169-20T>C	ENSP00000508221.1:n.*2169-20T>C
ENST00000683802.1:n.5222-20T>C
ENST00000683833.1:c.2288-20T>C	ENSP00000506852.1:n.2288-20T>C
ENST00000683989.1:c.2297-20T>C	ENSP00000507510.1:n.2297-20T>C
ENST00000683994.1:c.2297-20T>C	ENSP00000507181.1:n.2297-20T>C
ENST00000684290.1:c.2211-20T>C	ENSP00000507243.1:n.2211-20T>C
ENST00000684306.1:c.*2210-20T>C	ENSP00000508384.1:n.*2210-20T>C
ENST00000684341.1:n.2317-20T>C
ENST00000684383.1:c.*1935-20T>C	ENSP00000506863.1:n.*1935-20T>C
ENST00000684619.1:c.*2169-20T>C	ENSP00000508088.1:n.*2169-20T>C
ENST00000684743.1:n.3328-20T>C
ENST00000260665.12:c.2297-20T>C MANE Select	ENSP00000260665.7:n.2297-20T>C
ENST00000260665.11:c.2297-20T>C	ENSP00000260665.7:n.2297-20T>C
NM_133259.3:c.2297-20T>C	NP_573566.2:n.2297-20T>C
XM_006711915.2:c.2219-20T>C	XP_006711978.1:n.2219-20T>C
XM_006711916.2:c.2297-20T>C	XP_006711979.1:n.2297-20T>C
XM_011532473.1:c.2297-20T>C	XP_011530775.1:n.2297-20T>C
XM_011532474.1:c.2297-20T>C	XP_011530776.1:n.2297-20T>C
XM_006711916.3:c.2297-20T>C	XP_006711979.1:n.2297-20T>C
XM_017003117.1:c.2219-20T>C	XP_016858606.1:n.2219-20T>C
XR_002958896.1:n.2339-20T>C
NM_133259.4:c.2297-20T>C MANE Select	NP_573566.2:n.2297-20T>C