Canonical Allele Identifier: CA346676609

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899292-T-C
• MyVariant Identifiers: chr2:g.44126431T>C (hg19) ; chr2:g.43899292T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899292T>C , CM000664.2:g.43899292T>C	GRCh38
NC_000002.11:g.44126431T>C , CM000664.1:g.44126431T>C	GRCh37
NC_000002.10:g.43979935T>C	NCBI36
NG_008247.1:g.101714A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.183A>G
ENST00000472420.6:n.831A>G
ENST00000483489.2:n.183A>G
ENST00000681993.1:n.1304A>G
ENST00000682303.1:c.*3538A>G	ENSP00000508325.1:n.*3538A>G
ENST00000682308.1:c.3752A>G	ENSP00000507056.1:p.Tyr1251Cys
ENST00000682434.1:n.1303A>G
ENST00000682480.1:c.3770A>G	ENSP00000508344.1:p.Tyr1257Cys
ENST00000682546.1:c.3749A>G	ENSP00000508188.1:p.Tyr1250Cys
ENST00000682585.1:c.3752A>G	ENSP00000506885.1:p.Tyr1251Cys
ENST00000682595.1:n.4336A>G
ENST00000682607.1:c.2170A>G
ENST00000682612.1:c.604A>G
ENST00000682779.1:c.3743A>G	ENSP00000507947.1:p.Tyr1248Cys
ENST00000682845.1:n.2854A>G
ENST00000682885.1:c.3707A>G	ENSP00000508036.1:p.Tyr1236Cys
ENST00000682933.1:n.3826A>G
ENST00000683002.1:c.604A>G
ENST00000683072.1:n.4336A>G
ENST00000683080.1:n.1371A>G
ENST00000683125.1:c.3860A>G	ENSP00000507939.1:p.Tyr1287Cys
ENST00000683213.1:c.3755A>G	ENSP00000507751.1:p.Tyr1252Cys
ENST00000683220.1:c.3782A>G	ENSP00000507151.1:p.Tyr1261Cys
ENST00000683329.1:n.4555A>G
ENST00000683346.1:c.*3627A>G	ENSP00000507458.1:n.*3627A>G
ENST00000683409.1:n.2359A>G
ENST00000683459.1:n.4339A>G
ENST00000683528.1:c.680A>G
ENST00000683590.1:c.3500A>G	ENSP00000506820.1:p.Tyr1167Cys
ENST00000683623.1:c.3659A>G	ENSP00000507702.1:p.Tyr1220Cys
ENST00000683645.1:n.4303A>G
ENST00000683796.1:c.*3624A>G	ENSP00000508221.1:n.*3624A>G
ENST00000683802.1:n.6677A>G
ENST00000683833.1:c.3743A>G	ENSP00000506852.1:p.Tyr1248Cys
ENST00000683994.1:c.3752A>G	ENSP00000507181.1:p.Tyr1251Cys
ENST00000684290.1:c.*1288A>G	ENSP00000507243.1:n.*1288A>G
ENST00000684306.1:c.*3665A>G	ENSP00000508384.1:n.*3665A>G
ENST00000684341.1:n.3772A>G
ENST00000684383.1:c.*3390A>G	ENSP00000506863.1:n.*3390A>G
ENST00000684418.1:n.4933A>G
ENST00000684433.1:n.136A>G
ENST00000684454.1:n.3102A>G
ENST00000684619.1:c.*3624A>G	ENSP00000508088.1:n.*3624A>G
ENST00000684743.1:n.6497A>G
ENST00000260665.12:c.3752A>G MANE Select	ENSP00000260665.7:p.Tyr1251Cys
ENST00000260665.11:c.3752A>G	ENSP00000260665.7:p.Tyr1251Cys
ENST00000463456.5:n.2795A>G
ENST00000472420.5:n.149A>G
ENST00000483489.1:n.226A>G
NM_133259.3:c.3752A>G	NP_573566.2:p.Tyr1251Cys
XM_006711915.2:c.3674A>G	XP_006711978.1:p.Tyr1225Cys
XM_011532473.1:c.3752A>G	XP_011530775.1:p.Tyr1251Cys
XM_011532474.1:c.3752A>G	XP_011530776.1:p.Tyr1251Cys
XM_017003117.1:c.3674A>G	XP_016858606.1:p.Tyr1225Cys
XR_002958896.1:n.3794A>G
NM_133259.4:c.3752A>G MANE Select	NP_573566.2:p.Tyr1251Cys