Canonical Allele Identifier: CA346676743

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126462C>A (hg19) ; chr2:g.43899323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899323C>A , CM000664.2:g.43899323C>A	GRCh38
NC_000002.11:g.44126462C>A , CM000664.1:g.44126462C>A	GRCh37
NC_000002.10:g.43979966C>A	NCBI36
NG_008247.1:g.101683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.152G>T
ENST00000472420.6:n.800G>T
ENST00000483489.2:n.152G>T
ENST00000681993.1:n.1273G>T
ENST00000682303.1:c.*3507G>T	ENSP00000508325.1:n.*3507G>T
ENST00000682308.1:c.3721G>T	ENSP00000507056.1:p.Ala1241Ser
ENST00000682434.1:n.1272G>T
ENST00000682480.1:c.3739G>T	ENSP00000508344.1:p.Ala1247Ser
ENST00000682546.1:c.3718G>T	ENSP00000508188.1:p.Ala1240Ser
ENST00000682585.1:c.3721G>T	ENSP00000506885.1:p.Ala1241Ser
ENST00000682595.1:n.4305G>T
ENST00000682607.1:c.2139G>T
ENST00000682612.1:c.573G>T
ENST00000682779.1:c.3712G>T	ENSP00000507947.1:p.Ala1238Ser
ENST00000682845.1:n.2823G>T
ENST00000682885.1:c.3676G>T	ENSP00000508036.1:p.Ala1226Ser
ENST00000682933.1:n.3795G>T
ENST00000683002.1:c.573G>T
ENST00000683072.1:n.4305G>T
ENST00000683080.1:n.1340G>T
ENST00000683125.1:c.3829G>T	ENSP00000507939.1:p.Ala1277Ser
ENST00000683213.1:c.3724G>T	ENSP00000507751.1:p.Ala1242Ser
ENST00000683220.1:c.3751G>T	ENSP00000507151.1:p.Ala1251Ser
ENST00000683329.1:n.4524G>T
ENST00000683346.1:c.*3596G>T	ENSP00000507458.1:n.*3596G>T
ENST00000683409.1:n.2328G>T
ENST00000683459.1:n.4308G>T
ENST00000683528.1:c.649G>T
ENST00000683590.1:c.3469G>T	ENSP00000506820.1:p.Ala1157Ser
ENST00000683623.1:c.3628G>T	ENSP00000507702.1:p.Ala1210Ser
ENST00000683645.1:n.4272G>T
ENST00000683796.1:c.*3593G>T	ENSP00000508221.1:n.*3593G>T
ENST00000683802.1:n.6646G>T
ENST00000683833.1:c.3712G>T	ENSP00000506852.1:p.Ala1238Ser
ENST00000683994.1:c.3721G>T	ENSP00000507181.1:p.Ala1241Ser
ENST00000684290.1:c.*1257G>T	ENSP00000507243.1:n.*1257G>T
ENST00000684306.1:c.*3634G>T	ENSP00000508384.1:n.*3634G>T
ENST00000684341.1:n.3741G>T
ENST00000684383.1:c.*3359G>T	ENSP00000506863.1:n.*3359G>T
ENST00000684418.1:n.4902G>T
ENST00000684433.1:n.105G>T
ENST00000684454.1:n.3071G>T
ENST00000684619.1:c.*3593G>T	ENSP00000508088.1:n.*3593G>T
ENST00000684743.1:n.6466G>T
ENST00000260665.12:c.3721G>T MANE Select	ENSP00000260665.7:p.Ala1241Ser
ENST00000260665.11:c.3721G>T	ENSP00000260665.7:p.Ala1241Ser
ENST00000463456.5:n.2764G>T
ENST00000472420.5:n.118G>T
ENST00000483489.1:n.195G>T
NM_133259.3:c.3721G>T	NP_573566.2:p.Ala1241Ser
XM_006711915.2:c.3643G>T	XP_006711978.1:p.Ala1215Ser
XM_011532473.1:c.3721G>T	XP_011530775.1:p.Ala1241Ser
XM_011532474.1:c.3721G>T	XP_011530776.1:p.Ala1241Ser
XM_017003117.1:c.3643G>T	XP_016858606.1:p.Ala1215Ser
XR_002958896.1:n.3763G>T
NM_133259.4:c.3721G>T MANE Select	NP_573566.2:p.Ala1241Ser