Canonical Allele Identifier: CA346676674

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126445A>C (hg19) ; chr2:g.43899306A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899306A>C , CM000664.2:g.43899306A>C	GRCh38
NC_000002.11:g.44126445A>C , CM000664.1:g.44126445A>C	GRCh37
NC_000002.10:g.43979949A>C	NCBI36
NG_008247.1:g.101700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.169T>G
ENST00000472420.6:n.817T>G
ENST00000483489.2:n.169T>G
ENST00000681993.1:n.1290T>G
ENST00000682303.1:c.*3524T>G	ENSP00000508325.1:n.*3524T>G
ENST00000682308.1:c.3738T>G	ENSP00000507056.1:p.Asn1246Lys
ENST00000682434.1:n.1289T>G
ENST00000682480.1:c.3756T>G	ENSP00000508344.1:p.Asn1252Lys
ENST00000682546.1:c.3735T>G	ENSP00000508188.1:p.Asn1245Lys
ENST00000682585.1:c.3738T>G	ENSP00000506885.1:p.Asn1246Lys
ENST00000682595.1:n.4322T>G
ENST00000682607.1:c.2156T>G
ENST00000682612.1:c.590T>G
ENST00000682779.1:c.3729T>G	ENSP00000507947.1:p.Asn1243Lys
ENST00000682845.1:n.2840T>G
ENST00000682885.1:c.3693T>G	ENSP00000508036.1:p.Asn1231Lys
ENST00000682933.1:n.3812T>G
ENST00000683002.1:c.590T>G
ENST00000683072.1:n.4322T>G
ENST00000683080.1:n.1357T>G
ENST00000683125.1:c.3846T>G	ENSP00000507939.1:p.Asn1282Lys
ENST00000683213.1:c.3741T>G	ENSP00000507751.1:p.Asn1247Lys
ENST00000683220.1:c.3768T>G	ENSP00000507151.1:p.Asn1256Lys
ENST00000683329.1:n.4541T>G
ENST00000683346.1:c.*3613T>G	ENSP00000507458.1:n.*3613T>G
ENST00000683409.1:n.2345T>G
ENST00000683459.1:n.4325T>G
ENST00000683528.1:c.666T>G
ENST00000683590.1:c.3486T>G	ENSP00000506820.1:p.Asn1162Lys
ENST00000683623.1:c.3645T>G	ENSP00000507702.1:p.Asn1215Lys
ENST00000683645.1:n.4289T>G
ENST00000683796.1:c.*3610T>G	ENSP00000508221.1:n.*3610T>G
ENST00000683802.1:n.6663T>G
ENST00000683833.1:c.3729T>G	ENSP00000506852.1:p.Asn1243Lys
ENST00000683994.1:c.3738T>G	ENSP00000507181.1:p.Asn1246Lys
ENST00000684290.1:c.*1274T>G	ENSP00000507243.1:n.*1274T>G
ENST00000684306.1:c.*3651T>G	ENSP00000508384.1:n.*3651T>G
ENST00000684341.1:n.3758T>G
ENST00000684383.1:c.*3376T>G	ENSP00000506863.1:n.*3376T>G
ENST00000684418.1:n.4919T>G
ENST00000684433.1:n.122T>G
ENST00000684454.1:n.3088T>G
ENST00000684619.1:c.*3610T>G	ENSP00000508088.1:n.*3610T>G
ENST00000684743.1:n.6483T>G
ENST00000260665.12:c.3738T>G MANE Select	ENSP00000260665.7:p.Asn1246Lys
ENST00000260665.11:c.3738T>G	ENSP00000260665.7:p.Asn1246Lys
ENST00000463456.5:n.2781T>G
ENST00000472420.5:n.135T>G
ENST00000483489.1:n.212T>G
NM_133259.3:c.3738T>G	NP_573566.2:p.Asn1246Lys
XM_006711915.2:c.3660T>G	XP_006711978.1:p.Asn1220Lys
XM_011532473.1:c.3738T>G	XP_011530775.1:p.Asn1246Lys
XM_011532474.1:c.3738T>G	XP_011530776.1:p.Asn1246Lys
XM_017003117.1:c.3660T>G	XP_016858606.1:p.Asn1220Lys
XR_002958896.1:n.3780T>G
NM_133259.4:c.3738T>G MANE Select	NP_573566.2:p.Asn1246Lys