Canonical Allele Identifier: CA346665088

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1349052601
• MyVariant Identifiers: chr2:g.44132901C>A (hg19) ; chr2:g.43905762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905762C>A , CM000664.2:g.43905762C>A	GRCh38
NC_000002.11:g.44132901C>A , CM000664.1:g.44132901C>A	GRCh37
NC_000002.10:g.43986405C>A	NCBI36
NG_008247.1:g.95244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.373G>T
ENST00000681993.1:n.846G>T
ENST00000682295.1:c.449G>T	ENSP00000507499.1:n.449G>T
ENST00000682303.1:c.*3080G>T	ENSP00000508325.1:n.*3080G>T
ENST00000682308.1:c.3294G>T	ENSP00000507056.1:p.Lys1098Asn
ENST00000682480.1:c.3312G>T	ENSP00000508344.1:p.Lys1104Asn
ENST00000682546.1:c.3291G>T	ENSP00000508188.1:p.Lys1097Asn
ENST00000682585.1:c.3294G>T	ENSP00000506885.1:p.Lys1098Asn
ENST00000682595.1:n.3878G>T
ENST00000682607.1:c.1712G>T
ENST00000682612.1:c.146G>T
ENST00000682779.1:c.3285G>T	ENSP00000507947.1:p.Lys1095Asn
ENST00000682845.1:n.2396G>T
ENST00000682885.1:c.3249G>T	ENSP00000508036.1:p.Lys1083Asn
ENST00000682933.1:n.3368G>T
ENST00000683002.1:c.146G>T
ENST00000683072.1:n.3878G>T
ENST00000683080.1:n.913G>T
ENST00000683125.1:c.3402G>T	ENSP00000507939.1:p.Lys1134Asn
ENST00000683213.1:c.3297G>T	ENSP00000507751.1:p.Lys1099Asn
ENST00000683220.1:c.3324G>T	ENSP00000507151.1:p.Lys1108Asn
ENST00000683329.1:n.4097G>T
ENST00000683346.1:c.*3169G>T	ENSP00000507458.1:n.*3169G>T
ENST00000683409.1:n.1901G>T
ENST00000683459.1:n.3881G>T
ENST00000683528.1:c.146G>T
ENST00000683590.1:c.3042G>T	ENSP00000506820.1:p.Lys1014Asn
ENST00000683623.1:c.3201G>T	ENSP00000507702.1:p.Lys1067Asn
ENST00000683645.1:n.3845G>T
ENST00000683796.1:c.*3166G>T	ENSP00000508221.1:n.*3166G>T
ENST00000683802.1:n.6219G>T
ENST00000683833.1:c.3285G>T	ENSP00000506852.1:p.Lys1095Asn
ENST00000683994.1:c.3294G>T	ENSP00000507181.1:p.Lys1098Asn
ENST00000684290.1:c.*830G>T	ENSP00000507243.1:n.*830G>T
ENST00000684306.1:c.*3207G>T	ENSP00000508384.1:n.*3207G>T
ENST00000684341.1:n.3314G>T
ENST00000684383.1:c.*2932G>T	ENSP00000506863.1:n.*2932G>T
ENST00000684418.1:n.4475G>T
ENST00000684454.1:n.2644G>T
ENST00000684619.1:c.*3166G>T	ENSP00000508088.1:n.*3166G>T
ENST00000684743.1:n.4325G>T
ENST00000260665.12:c.3294G>T MANE Select	ENSP00000260665.7:p.Lys1098Asn
ENST00000260665.11:c.3294G>T	ENSP00000260665.7:p.Lys1098Asn
NM_133259.3:c.3294G>T	NP_573566.2:p.Lys1098Asn
XM_006711915.2:c.3216G>T	XP_006711978.1:p.Lys1072Asn
XM_011532473.1:c.3294G>T	XP_011530775.1:p.Lys1098Asn
XM_011532474.1:c.3294G>T	XP_011530776.1:p.Lys1098Asn
XM_017003117.1:c.3216G>T	XP_016858606.1:p.Lys1072Asn
XR_002958896.1:n.3336G>T
NM_133259.4:c.3294G>T MANE Select	NP_573566.2:p.Lys1098Asn