Canonical Allele Identifier: CA1638206

Gene: LRPPRC

Linked Data

• dbSNP Id: rs753329157
• ExAC: 2:44145223 G / A
• gnomAD v2: 2-44145223-G-A
• gnomAD v4: 2-43918084-G-A
• MyVariant Identifiers: chr2:g.44145223G>A (hg19) ; chr2:g.43918084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918084G>A , CM000664.2:g.43918084G>A	GRCh38
NC_000002.11:g.44145223G>A , CM000664.1:g.44145223G>A	GRCh37
NC_000002.10:g.43998727G>A	NCBI36
NG_008247.1:g.82922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.641C>T
ENST00000682295.1:c.303+172C>T	ENSP00000507499.1:n.303+172C>T
ENST00000682303.1:c.*2875C>T	ENSP00000508325.1:n.*2875C>T
ENST00000682308.1:c.3089C>T	ENSP00000507056.1:p.Thr1030Ile
ENST00000682480.1:c.3107C>T	ENSP00000508344.1:p.Thr1036Ile
ENST00000682546.1:c.3086C>T	ENSP00000508188.1:p.Thr1029Ile
ENST00000682585.1:c.3089C>T	ENSP00000506885.1:p.Thr1030Ile
ENST00000682595.1:n.3673C>T
ENST00000682607.1:c.1507C>T
ENST00000682779.1:c.3080C>T	ENSP00000507947.1:p.Thr1027Ile
ENST00000682845.1:n.2191C>T
ENST00000682885.1:c.3044C>T	ENSP00000508036.1:p.Thr1015Ile
ENST00000682933.1:n.3163C>T
ENST00000683072.1:n.3673C>T
ENST00000683080.1:n.708C>T
ENST00000683125.1:c.3197C>T	ENSP00000507939.1:p.Thr1066Ile
ENST00000683213.1:c.3092C>T	ENSP00000507751.1:p.Thr1031Ile
ENST00000683220.1:c.3119C>T	ENSP00000507151.1:p.Thr1040Ile
ENST00000683329.1:n.3892C>T
ENST00000683346.1:c.*2964C>T	ENSP00000507458.1:n.*2964C>T
ENST00000683409.1:n.1696C>T
ENST00000683459.1:n.3676C>T
ENST00000683590.1:c.2897-5526C>T	ENSP00000506820.1:n.2897-5526C>T
ENST00000683623.1:c.2996C>T	ENSP00000507702.1:p.Thr999Ile
ENST00000683645.1:n.3640C>T
ENST00000683796.1:c.*2961C>T	ENSP00000508221.1:n.*2961C>T
ENST00000683802.1:n.6014C>T
ENST00000683833.1:c.3080C>T	ENSP00000506852.1:p.Thr1027Ile
ENST00000683994.1:c.3089C>T	ENSP00000507181.1:p.Thr1030Ile
ENST00000684290.1:c.*625C>T	ENSP00000507243.1:n.*625C>T
ENST00000684306.1:c.*3002C>T	ENSP00000508384.1:n.*3002C>T
ENST00000684341.1:n.3109C>T
ENST00000684383.1:c.*2727C>T	ENSP00000506863.1:n.*2727C>T
ENST00000684619.1:c.*2961C>T	ENSP00000508088.1:n.*2961C>T
ENST00000684705.1:n.210C>T
ENST00000684743.1:n.4120C>T
ENST00000260665.12:c.3089C>T MANE Select	ENSP00000260665.7:p.Thr1030Ile
ENST00000260665.11:c.3089C>T	ENSP00000260665.7:p.Thr1030Ile
NM_133259.3:c.3089C>T	NP_573566.2:p.Thr1030Ile
XM_006711915.2:c.3011C>T	XP_006711978.1:p.Thr1004Ile
XM_006711916.2:c.3089C>T	XP_006711979.1:p.Thr1030Ile
XM_011532473.1:c.3089C>T	XP_011530775.1:p.Thr1030Ile
XM_011532474.1:c.3089C>T	XP_011530776.1:p.Thr1030Ile
XM_006711916.3:c.3089C>T	XP_006711979.1:p.Thr1030Ile
XM_017003117.1:c.3011C>T	XP_016858606.1:p.Thr1004Ile
XR_002958896.1:n.3131C>T
NM_133259.4:c.3089C>T MANE Select	NP_573566.2:p.Thr1030Ile