Canonical Allele Identifier: CA425909280

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899279-A-G
• MyVariant Identifiers: chr2:g.44126418A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899279A>G , CM000664.2:g.43899279A>G	GRCh38
NC_000002.11:g.44126418A>G , CM000664.1:g.44126418A>G	GRCh37
NC_000002.10:g.43979922A>G	NCBI36
NG_008247.1:g.101727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.196T>C
ENST00000472420.6:n.844T>C
ENST00000483489.2:n.196T>C
ENST00000681993.1:n.1317T>C
ENST00000682303.1:c.*3551T>C	ENSP00000508325.1:n.*3551T>C
ENST00000682308.1:c.3765T>C	ENSP00000507056.1:p.Thr1255=
ENST00000682434.1:n.1316T>C
ENST00000682480.1:c.3783T>C	ENSP00000508344.1:p.Thr1261=
ENST00000682546.1:c.3762T>C	ENSP00000508188.1:p.Thr1254=
ENST00000682585.1:c.3765T>C	ENSP00000506885.1:p.Thr1255=
ENST00000682595.1:n.4349T>C
ENST00000682607.1:c.2183T>C
ENST00000682612.1:c.617T>C
ENST00000682779.1:c.3756T>C	ENSP00000507947.1:p.Thr1252=
ENST00000682845.1:n.2867T>C
ENST00000682885.1:c.3720T>C	ENSP00000508036.1:p.Thr1240=
ENST00000682933.1:n.3839T>C
ENST00000683002.1:c.617T>C
ENST00000683072.1:n.4349T>C
ENST00000683080.1:n.1384T>C
ENST00000683125.1:c.3873T>C	ENSP00000507939.1:p.Thr1291=
ENST00000683213.1:c.3768T>C	ENSP00000507751.1:p.Thr1256=
ENST00000683220.1:c.3795T>C	ENSP00000507151.1:p.Thr1265=
ENST00000683329.1:n.4568T>C
ENST00000683346.1:c.*3640T>C	ENSP00000507458.1:n.*3640T>C
ENST00000683409.1:n.2372T>C
ENST00000683459.1:n.4352T>C
ENST00000683528.1:c.693T>C
ENST00000683590.1:c.3513T>C	ENSP00000506820.1:p.Thr1171=
ENST00000683623.1:c.3672T>C	ENSP00000507702.1:p.Thr1224=
ENST00000683645.1:n.4316T>C
ENST00000683796.1:c.*3637T>C	ENSP00000508221.1:n.*3637T>C
ENST00000683802.1:n.6690T>C
ENST00000683833.1:c.3756T>C	ENSP00000506852.1:p.Thr1252=
ENST00000683994.1:c.3765T>C	ENSP00000507181.1:p.Thr1255=
ENST00000684290.1:c.*1301T>C	ENSP00000507243.1:n.*1301T>C
ENST00000684306.1:c.*3678T>C	ENSP00000508384.1:n.*3678T>C
ENST00000684341.1:n.3785T>C
ENST00000684383.1:c.*3403T>C	ENSP00000506863.1:n.*3403T>C
ENST00000684418.1:n.4946T>C
ENST00000684433.1:n.149T>C
ENST00000684454.1:n.3115T>C
ENST00000684619.1:c.*3637T>C	ENSP00000508088.1:n.*3637T>C
ENST00000684743.1:n.6510T>C
ENST00000260665.12:c.3765T>C MANE Select	ENSP00000260665.7:p.Thr1255=
ENST00000260665.11:c.3765T>C	ENSP00000260665.7:p.Thr1255=
ENST00000419884.5:c.6T>C	ENSP00000414207.1:p.Thr2=
ENST00000463456.5:n.2808T>C
ENST00000472420.5:n.162T>C
ENST00000483489.1:n.239T>C
NM_133259.3:c.3765T>C	NP_573566.2:p.Thr1255=
XM_006711915.2:c.3687T>C	XP_006711978.1:p.Thr1229=
XM_011532473.1:c.3765T>C	XP_011530775.1:p.Thr1255=
XM_011532474.1:c.3765T>C	XP_011530776.1:p.Thr1255=
XM_017003117.1:c.3687T>C	XP_016858606.1:p.Thr1229=
XR_002958896.1:n.3807T>C
NM_133259.4:c.3765T>C MANE Select	NP_573566.2:p.Thr1255=