Canonical Allele Identifier: CA1638700

Gene: LRPPRC

Linked Data

• dbSNP Id: rs377435687
• ExAC: 2:44175336 A / G
• gnomAD v2: 2-44175336-A-G
• gnomAD v3: 2-43948197-A-G
• gnomAD v4: 2-43948197-A-G
• MyVariant Identifiers: chr2:g.44175336A>G (hg19) ; chr2:g.43948197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948197A>G , CM000664.2:g.43948197A>G	GRCh38
NC_000002.11:g.44175336A>G , CM000664.1:g.44175336A>G	GRCh37
NC_000002.10:g.44028840A>G	NCBI36
NG_008247.1:g.52809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1845T>C	ENSP00000386562.2:p.Asn615=
ENST00000447246.2:c.1845T>C	ENSP00000403637.2:p.Asn615=
ENST00000467058.2:n.574T>C
ENST00000681959.1:n.1459T>C
ENST00000681961.1:n.1865T>C
ENST00000682104.1:c.1719T>C	ENSP00000507716.1:p.Asn573=
ENST00000682303.1:c.*1717T>C	ENSP00000508325.1:n.*1717T>C
ENST00000682308.1:c.1845T>C	ENSP00000507056.1:p.Asn615=
ENST00000682480.1:c.1845T>C	ENSP00000508344.1:p.Asn615=
ENST00000682546.1:c.1842T>C	ENSP00000508188.1:p.Asn614=
ENST00000682585.1:c.1845T>C	ENSP00000506885.1:p.Asn615=
ENST00000682595.1:n.2427T>C
ENST00000682607.1:c.263T>C
ENST00000682779.1:c.1836T>C	ENSP00000507947.1:p.Asn612=
ENST00000682885.1:c.1845T>C	ENSP00000508036.1:p.Asn615=
ENST00000682933.1:n.1919T>C
ENST00000683072.1:n.2427T>C
ENST00000683082.1:n.1863T>C
ENST00000683125.1:c.1845T>C	ENSP00000507939.1:p.Asn615=
ENST00000683213.1:c.1848T>C	ENSP00000507751.1:p.Asn616=
ENST00000683220.1:c.1875T>C	ENSP00000507151.1:p.Asn625=
ENST00000683329.1:n.2648T>C
ENST00000683346.1:c.*1720T>C	ENSP00000507458.1:n.*1720T>C
ENST00000683459.1:n.2432T>C
ENST00000683590.1:c.1845T>C	ENSP00000506820.1:p.Asn615=
ENST00000683623.1:c.1845T>C	ENSP00000507702.1:p.Asn615=
ENST00000683645.1:n.2396T>C
ENST00000683694.1:n.596T>C
ENST00000683796.1:c.*1717T>C	ENSP00000508221.1:n.*1717T>C
ENST00000683802.1:n.4770T>C
ENST00000683833.1:c.1836T>C	ENSP00000506852.1:p.Asn612=
ENST00000683934.1:c.1731T>C
ENST00000683989.1:c.1845T>C	ENSP00000507510.1:p.Asn615=
ENST00000683994.1:c.1845T>C	ENSP00000507181.1:p.Asn615=
ENST00000684290.1:c.1845T>C	ENSP00000507243.1:p.Asn615=
ENST00000684306.1:c.*1758T>C	ENSP00000508384.1:n.*1758T>C
ENST00000684341.1:n.1865T>C
ENST00000684383.1:c.*1483T>C	ENSP00000506863.1:n.*1483T>C
ENST00000684482.1:c.4314T>C
ENST00000684619.1:c.*1717T>C	ENSP00000508088.1:n.*1717T>C
ENST00000684743.1:n.2876T>C
ENST00000260665.12:c.1845T>C MANE Select	ENSP00000260665.7:p.Asn615=
ENST00000260665.11:c.1845T>C	ENSP00000260665.7:p.Asn615=
NM_133259.3:c.1845T>C	NP_573566.2:p.Asn615=
XM_006711915.2:c.1767T>C	XP_006711978.1:p.Asn589=
XM_006711916.2:c.1845T>C	XP_006711979.1:p.Asn615=
XM_011532473.1:c.1845T>C	XP_011530775.1:p.Asn615=
XM_011532474.1:c.1845T>C	XP_011530776.1:p.Asn615=
XM_006711916.3:c.1845T>C	XP_006711979.1:p.Asn615=
XM_017003117.1:c.1767T>C	XP_016858606.1:p.Asn589=
XR_002958896.1:n.1887T>C
NM_133259.4:c.1845T>C MANE Select	NP_573566.2:p.Asn615=