Canonical Allele Identifier: CA346674824

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121726T>G (hg19) ; chr2:g.43894587T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894587T>G , CM000664.2:g.43894587T>G	GRCh38
NC_000002.11:g.44121726T>G , CM000664.1:g.44121726T>G	GRCh37
NC_000002.10:g.43975230T>G	NCBI36
NG_008247.1:g.106419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.573A>C
ENST00000681993.1:n.1495A>C
ENST00000682154.1:n.1377A>C
ENST00000682303.1:c.*3654A>C	ENSP00000508325.1:n.*3654A>C
ENST00000682308.1:c.3868A>C	ENSP00000507056.1:p.Asn1290His
ENST00000682434.1:n.3498A>C
ENST00000682480.1:c.3961A>C	ENSP00000508344.1:p.Asn1321His
ENST00000682546.1:c.3940A>C	ENSP00000508188.1:p.Asn1314His
ENST00000682585.1:c.*71A>C	ENSP00000506885.1:n.*71A>C
ENST00000682607.1:c.2686A>C
ENST00000682612.1:c.752+2047A>C
ENST00000682696.1:c.43A>C	ENSP00000508411.1:p.Asn15His
ENST00000682779.1:c.3934A>C	ENSP00000507947.1:p.Asn1312His
ENST00000682885.1:c.3898A>C	ENSP00000508036.1:p.Asn1300His
ENST00000682933.1:n.4143A>C
ENST00000683002.1:c.795A>C
ENST00000683072.1:n.4527A>C
ENST00000683080.1:n.1562A>C
ENST00000683096.1:n.2384A>C
ENST00000683125.1:c.4051A>C	ENSP00000507939.1:p.Asn1351His
ENST00000683213.1:c.3946A>C	ENSP00000507751.1:p.Asn1316His
ENST00000683220.1:c.3973A>C	ENSP00000507151.1:p.Asn1325His
ENST00000683329.1:n.4746A>C
ENST00000683346.1:c.*3818A>C	ENSP00000507458.1:n.*3818A>C
ENST00000683409.1:n.2475A>C
ENST00000683459.1:n.4530A>C
ENST00000683590.1:c.3616A>C	ENSP00000506820.1:p.Asn1206His
ENST00000683623.1:c.3850A>C	ENSP00000507702.1:p.Asn1284His
ENST00000683796.1:c.*3740A>C	ENSP00000508221.1:n.*3740A>C
ENST00000683833.1:c.3859A>C	ENSP00000506852.1:p.Asn1287His
ENST00000683994.1:c.*56A>C	ENSP00000507181.1:n.*56A>C
ENST00000684290.1:c.*1404A>C	ENSP00000507243.1:n.*1404A>C
ENST00000684306.1:c.*3856A>C	ENSP00000508384.1:n.*3856A>C
ENST00000684383.1:c.*3581A>C	ENSP00000506863.1:n.*3581A>C
ENST00000684418.1:n.5124A>C
ENST00000684433.1:n.327A>C
ENST00000684454.1:n.7807A>C
ENST00000684619.1:c.*3815A>C	ENSP00000508088.1:n.*3815A>C
ENST00000684743.1:n.6688A>C
ENST00000260665.12:c.3943A>C MANE Select	ENSP00000260665.7:p.Asn1315His
ENST00000260665.11:c.3943A>C	ENSP00000260665.7:p.Asn1315His
ENST00000419884.5:c.184A>C	ENSP00000414207.1:p.Asn62His
ENST00000463456.5:n.2986A>C
NM_133259.3:c.3943A>C	NP_573566.2:p.Asn1315His
XM_006711915.2:c.3865A>C	XP_006711978.1:p.Asn1289His
XM_011532473.1:c.3868A>C	XP_011530775.1:p.Asn1290His
XM_011532474.1:c.3943A>C	XP_011530776.1:p.Asn1315His
XM_017003117.1:c.3790A>C	XP_016858606.1:p.Asn1264His
XR_002958896.1:n.3985A>C
NM_133259.4:c.3943A>C MANE Select	NP_573566.2:p.Asn1315His