Canonical Allele Identifier: CA346664861

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905700-T-C
• MyVariant Identifiers: chr2:g.44132839T>C (hg19) ; chr2:g.43905700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905700T>C , CM000664.2:g.43905700T>C	GRCh38
NC_000002.11:g.44132839T>C , CM000664.1:g.44132839T>C	GRCh37
NC_000002.10:g.43986343T>C	NCBI36
NG_008247.1:g.95306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.435A>G
ENST00000681993.1:n.908A>G
ENST00000682295.1:c.511A>G	ENSP00000507499.1:n.511A>G
ENST00000682303.1:c.*3142A>G	ENSP00000508325.1:n.*3142A>G
ENST00000682308.1:c.3356A>G	ENSP00000507056.1:p.Tyr1119Cys
ENST00000682480.1:c.3374A>G	ENSP00000508344.1:p.Tyr1125Cys
ENST00000682546.1:c.3353A>G	ENSP00000508188.1:p.Tyr1118Cys
ENST00000682585.1:c.3356A>G	ENSP00000506885.1:p.Tyr1119Cys
ENST00000682595.1:n.3940A>G
ENST00000682607.1:c.1774A>G
ENST00000682612.1:c.208A>G
ENST00000682779.1:c.3347A>G	ENSP00000507947.1:p.Tyr1116Cys
ENST00000682845.1:n.2458A>G
ENST00000682885.1:c.3311A>G	ENSP00000508036.1:p.Tyr1104Cys
ENST00000682933.1:n.3430A>G
ENST00000683002.1:c.208A>G
ENST00000683072.1:n.3940A>G
ENST00000683080.1:n.975A>G
ENST00000683125.1:c.3464A>G	ENSP00000507939.1:p.Tyr1155Cys
ENST00000683213.1:c.3359A>G	ENSP00000507751.1:p.Tyr1120Cys
ENST00000683220.1:c.3386A>G	ENSP00000507151.1:p.Tyr1129Cys
ENST00000683329.1:n.4159A>G
ENST00000683346.1:c.*3231A>G	ENSP00000507458.1:n.*3231A>G
ENST00000683409.1:n.1963A>G
ENST00000683459.1:n.3943A>G
ENST00000683528.1:c.208A>G
ENST00000683590.1:c.3104A>G	ENSP00000506820.1:p.Tyr1035Cys
ENST00000683623.1:c.3263A>G	ENSP00000507702.1:p.Tyr1088Cys
ENST00000683645.1:n.3907A>G
ENST00000683796.1:c.*3228A>G	ENSP00000508221.1:n.*3228A>G
ENST00000683802.1:n.6281A>G
ENST00000683833.1:c.3347A>G	ENSP00000506852.1:p.Tyr1116Cys
ENST00000683994.1:c.3356A>G	ENSP00000507181.1:p.Tyr1119Cys
ENST00000684290.1:c.*892A>G	ENSP00000507243.1:n.*892A>G
ENST00000684306.1:c.*3269A>G	ENSP00000508384.1:n.*3269A>G
ENST00000684341.1:n.3376A>G
ENST00000684383.1:c.*2994A>G	ENSP00000506863.1:n.*2994A>G
ENST00000684418.1:n.4537A>G
ENST00000684454.1:n.2706A>G
ENST00000684619.1:c.*3228A>G	ENSP00000508088.1:n.*3228A>G
ENST00000684743.1:n.4387A>G
ENST00000260665.12:c.3356A>G MANE Select	ENSP00000260665.7:p.Tyr1119Cys
ENST00000260665.11:c.3356A>G	ENSP00000260665.7:p.Tyr1119Cys
NM_133259.3:c.3356A>G	NP_573566.2:p.Tyr1119Cys
XM_006711915.2:c.3278A>G	XP_006711978.1:p.Tyr1093Cys
XM_011532473.1:c.3356A>G	XP_011530775.1:p.Tyr1119Cys
XM_011532474.1:c.3356A>G	XP_011530776.1:p.Tyr1119Cys
XM_017003117.1:c.3278A>G	XP_016858606.1:p.Tyr1093Cys
XR_002958896.1:n.3398A>G
NM_133259.4:c.3356A>G MANE Select	NP_573566.2:p.Tyr1119Cys