Canonical Allele Identifier: CA425908259

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905768-G-A
• MyVariant Identifiers: chr2:g.44132907G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905768G>A , CM000664.2:g.43905768G>A	GRCh38
NC_000002.11:g.44132907G>A , CM000664.1:g.44132907G>A	GRCh37
NC_000002.10:g.43986411G>A	NCBI36
NG_008247.1:g.95238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.367C>T
ENST00000681993.1:n.840C>T
ENST00000682295.1:c.443C>T	ENSP00000507499.1:n.443C>T
ENST00000682303.1:c.*3074C>T	ENSP00000508325.1:n.*3074C>T
ENST00000682308.1:c.3288C>T	ENSP00000507056.1:p.His1096=
ENST00000682480.1:c.3306C>T	ENSP00000508344.1:p.His1102=
ENST00000682546.1:c.3285C>T	ENSP00000508188.1:p.His1095=
ENST00000682585.1:c.3288C>T	ENSP00000506885.1:p.His1096=
ENST00000682595.1:n.3872C>T
ENST00000682607.1:c.1706C>T
ENST00000682612.1:c.140C>T
ENST00000682779.1:c.3279C>T	ENSP00000507947.1:p.His1093=
ENST00000682845.1:n.2390C>T
ENST00000682885.1:c.3243C>T	ENSP00000508036.1:p.His1081=
ENST00000682933.1:n.3362C>T
ENST00000683002.1:c.140C>T
ENST00000683072.1:n.3872C>T
ENST00000683080.1:n.907C>T
ENST00000683125.1:c.3396C>T	ENSP00000507939.1:p.His1132=
ENST00000683213.1:c.3291C>T	ENSP00000507751.1:p.His1097=
ENST00000683220.1:c.3318C>T	ENSP00000507151.1:p.His1106=
ENST00000683329.1:n.4091C>T
ENST00000683346.1:c.*3163C>T	ENSP00000507458.1:n.*3163C>T
ENST00000683409.1:n.1895C>T
ENST00000683459.1:n.3875C>T
ENST00000683528.1:c.140C>T
ENST00000683590.1:c.3036C>T	ENSP00000506820.1:p.His1012=
ENST00000683623.1:c.3195C>T	ENSP00000507702.1:p.His1065=
ENST00000683645.1:n.3839C>T
ENST00000683796.1:c.*3160C>T	ENSP00000508221.1:n.*3160C>T
ENST00000683802.1:n.6213C>T
ENST00000683833.1:c.3279C>T	ENSP00000506852.1:p.His1093=
ENST00000683994.1:c.3288C>T	ENSP00000507181.1:p.His1096=
ENST00000684290.1:c.*824C>T	ENSP00000507243.1:n.*824C>T
ENST00000684306.1:c.*3201C>T	ENSP00000508384.1:n.*3201C>T
ENST00000684341.1:n.3308C>T
ENST00000684383.1:c.*2926C>T	ENSP00000506863.1:n.*2926C>T
ENST00000684418.1:n.4469C>T
ENST00000684454.1:n.2638C>T
ENST00000684619.1:c.*3160C>T	ENSP00000508088.1:n.*3160C>T
ENST00000684743.1:n.4319C>T
ENST00000260665.12:c.3288C>T MANE Select	ENSP00000260665.7:p.His1096=
ENST00000260665.11:c.3288C>T	ENSP00000260665.7:p.His1096=
NM_133259.3:c.3288C>T	NP_573566.2:p.His1096=
XM_006711915.2:c.3210C>T	XP_006711978.1:p.His1070=
XM_011532473.1:c.3288C>T	XP_011530775.1:p.His1096=
XM_011532474.1:c.3288C>T	XP_011530776.1:p.His1096=
XM_017003117.1:c.3210C>T	XP_016858606.1:p.His1070=
XR_002958896.1:n.3330C>T
NM_133259.4:c.3288C>T MANE Select	NP_573566.2:p.His1096=