Canonical Allele Identifier: CA425910667
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44184574C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43957435C>T , CM000664.2:g.43957435C>T GRCh38
NC_000002.11:g.44184574C>T , CM000664.1:g.44184574C>T GRCh37
NC_000002.10:g.44038078C>T NCBI36
NG_008247.1:g.43571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1599G>A ENSP00000386562.2:p.Leu533=
ENST00000447246.2:c.1599G>A ENSP00000403637.2:p.Leu533=
ENST00000467058.2:n.328G>A
ENST00000681959.1:n.1213G>A
ENST00000681961.1:n.1619G>A
ENST00000682104.1:c.1473G>A ENSP00000507716.1:p.Leu491=
ENST00000682303.1:c.*1471G>A ENSP00000508325.1:n.*1471G>A
ENST00000682308.1:c.1599G>A ENSP00000507056.1:p.Leu533=
ENST00000682480.1:c.1599G>A ENSP00000508344.1:p.Leu533=
ENST00000682546.1:c.1599G>A ENSP00000508188.1:p.Leu533=
ENST00000682585.1:c.1599G>A ENSP00000506885.1:p.Leu533=
ENST00000682595.1:n.2181G>A
ENST00000682607.1:c.17G>A
ENST00000682779.1:c.1590G>A ENSP00000507947.1:p.Leu530=
ENST00000682885.1:c.1599G>A ENSP00000508036.1:p.Leu533=
ENST00000682933.1:n.1673G>A
ENST00000683072.1:n.2181G>A
ENST00000683082.1:n.1617G>A
ENST00000683125.1:c.1599G>A ENSP00000507939.1:p.Leu533=
ENST00000683213.1:c.1602G>A ENSP00000507751.1:p.Leu534=
ENST00000683220.1:c.1599G>A ENSP00000507151.1:p.Leu533=
ENST00000683329.1:n.2402G>A
ENST00000683346.1:c.*1474G>A ENSP00000507458.1:n.*1474G>A
ENST00000683459.1:n.2186G>A
ENST00000683590.1:c.1599G>A ENSP00000506820.1:p.Leu533=
ENST00000683623.1:c.1599G>A ENSP00000507702.1:p.Leu533=
ENST00000683645.1:n.2119G>A
ENST00000683694.1:n.350G>A
ENST00000683796.1:c.*1471G>A ENSP00000508221.1:n.*1471G>A
ENST00000683802.1:n.4524G>A
ENST00000683833.1:c.1590G>A ENSP00000506852.1:p.Leu530=
ENST00000683934.1:c.1485G>A
ENST00000683989.1:c.1599G>A ENSP00000507510.1:p.Leu533=
ENST00000683994.1:c.1599G>A ENSP00000507181.1:p.Leu533=
ENST00000684290.1:c.1599G>A ENSP00000507243.1:p.Leu533=
ENST00000684306.1:c.*1512G>A ENSP00000508384.1:n.*1512G>A
ENST00000684341.1:n.1619G>A
ENST00000684383.1:c.*1237G>A ENSP00000506863.1:n.*1237G>A
ENST00000684482.1:c.4068G>A
ENST00000684619.1:c.*1471G>A ENSP00000508088.1:n.*1471G>A
ENST00000684743.1:n.2630G>A
ENST00000260665.12:c.1599G>A MANE Select ENSP00000260665.7:p.Leu533=
ENST00000260665.11:c.1599G>A ENSP00000260665.7:p.Leu533=
ENST00000467058.1:n.328G>A
NM_133259.3:c.1599G>A NP_573566.2:p.Leu533=
XM_006711915.2:c.1521G>A XP_006711978.1:p.Leu507=
XM_006711916.2:c.1599G>A XP_006711979.1:p.Leu533=
XM_011532473.1:c.1599G>A XP_011530775.1:p.Leu533=
XM_011532474.1:c.1599G>A XP_011530776.1:p.Leu533=
XM_006711916.3:c.1599G>A XP_006711979.1:p.Leu533=
XM_017003117.1:c.1521G>A XP_016858606.1:p.Leu507=
XR_002958896.1:n.1641G>A
NM_133259.4:c.1599G>A MANE Select NP_573566.2:p.Leu533=