Canonical Allele Identifier: CA425910349

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44175294G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948155G>C , CM000664.2:g.43948155G>C	GRCh38
NC_000002.11:g.44175294G>C , CM000664.1:g.44175294G>C	GRCh37
NC_000002.10:g.44028798G>C	NCBI36
NG_008247.1:g.52851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1887C>G	ENSP00000386562.2:p.Leu629=
ENST00000447246.2:c.1887C>G	ENSP00000403637.2:p.Leu629=
ENST00000681959.1:n.1501C>G
ENST00000681961.1:n.1907C>G
ENST00000682104.1:c.1761C>G	ENSP00000507716.1:p.Leu587=
ENST00000682303.1:c.*1759C>G	ENSP00000508325.1:n.*1759C>G
ENST00000682308.1:c.1887C>G	ENSP00000507056.1:p.Leu629=
ENST00000682480.1:c.1887C>G	ENSP00000508344.1:p.Leu629=
ENST00000682546.1:c.1884C>G	ENSP00000508188.1:p.Leu628=
ENST00000682585.1:c.1887C>G	ENSP00000506885.1:p.Leu629=
ENST00000682595.1:n.2469C>G
ENST00000682607.1:c.305C>G
ENST00000682779.1:c.1878C>G	ENSP00000507947.1:p.Leu626=
ENST00000682885.1:c.1887C>G	ENSP00000508036.1:p.Leu629=
ENST00000682933.1:n.1961C>G
ENST00000683072.1:n.2469C>G
ENST00000683082.1:n.1905C>G
ENST00000683125.1:c.1887C>G	ENSP00000507939.1:p.Leu629=
ENST00000683213.1:c.1890C>G	ENSP00000507751.1:p.Leu630=
ENST00000683220.1:c.1917C>G	ENSP00000507151.1:p.Leu639=
ENST00000683329.1:n.2690C>G
ENST00000683346.1:c.*1762C>G	ENSP00000507458.1:n.*1762C>G
ENST00000683459.1:n.2474C>G
ENST00000683590.1:c.1887C>G	ENSP00000506820.1:p.Leu629=
ENST00000683623.1:c.1887C>G	ENSP00000507702.1:p.Leu629=
ENST00000683645.1:n.2438C>G
ENST00000683694.1:n.638C>G
ENST00000683796.1:c.*1759C>G	ENSP00000508221.1:n.*1759C>G
ENST00000683802.1:n.4812C>G
ENST00000683833.1:c.1878C>G	ENSP00000506852.1:p.Leu626=
ENST00000683934.1:c.1773C>G
ENST00000683989.1:c.1887C>G	ENSP00000507510.1:p.Leu629=
ENST00000683994.1:c.1887C>G	ENSP00000507181.1:p.Leu629=
ENST00000684290.1:c.1887C>G	ENSP00000507243.1:p.Leu629=
ENST00000684306.1:c.*1800C>G	ENSP00000508384.1:n.*1800C>G
ENST00000684341.1:n.1907C>G
ENST00000684383.1:c.*1525C>G	ENSP00000506863.1:n.*1525C>G
ENST00000684482.1:c.4356C>G
ENST00000684619.1:c.*1759C>G	ENSP00000508088.1:n.*1759C>G
ENST00000684743.1:n.2918C>G
ENST00000260665.12:c.1887C>G MANE Select	ENSP00000260665.7:p.Leu629=
ENST00000260665.11:c.1887C>G	ENSP00000260665.7:p.Leu629=
NM_133259.3:c.1887C>G	NP_573566.2:p.Leu629=
XM_006711915.2:c.1809C>G	XP_006711978.1:p.Leu603=
XM_006711916.2:c.1887C>G	XP_006711979.1:p.Leu629=
XM_011532473.1:c.1887C>G	XP_011530775.1:p.Leu629=
XM_011532474.1:c.1887C>G	XP_011530776.1:p.Leu629=
XM_006711916.3:c.1887C>G	XP_006711979.1:p.Leu629=
XM_017003117.1:c.1809C>G	XP_016858606.1:p.Leu603=
XR_002958896.1:n.1929C>G
NM_133259.4:c.1887C>G MANE Select	NP_573566.2:p.Leu629=