Canonical Allele Identifier: CA46441799

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2202175
• ClinVar RCV Id: RCV002629911
• dbSNP Id: rs758090531
• gnomAD v2: 2-44145265-T-C
• gnomAD v4: 2-43918126-T-C
• MyVariant Identifiers: chr2:g.44145265T>C (hg19) ; chr2:g.43918126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918126T>C , CM000664.2:g.43918126T>C	GRCh38
NC_000002.11:g.44145265T>C , CM000664.1:g.44145265T>C	GRCh37
NC_000002.10:g.43998769T>C	NCBI36
NG_008247.1:g.82880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.599A>G
ENST00000682295.1:c.303+130A>G	ENSP00000507499.1:n.303+130A>G
ENST00000682303.1:c.*2833A>G	ENSP00000508325.1:n.*2833A>G
ENST00000682308.1:c.3047A>G	ENSP00000507056.1:p.Tyr1016Cys
ENST00000682480.1:c.3065A>G	ENSP00000508344.1:p.Tyr1022Cys
ENST00000682546.1:c.3044A>G	ENSP00000508188.1:p.Tyr1015Cys
ENST00000682585.1:c.3047A>G	ENSP00000506885.1:p.Tyr1016Cys
ENST00000682595.1:n.3631A>G
ENST00000682607.1:c.1465A>G
ENST00000682779.1:c.3038A>G	ENSP00000507947.1:p.Tyr1013Cys
ENST00000682845.1:n.2149A>G
ENST00000682885.1:c.3002A>G	ENSP00000508036.1:p.Tyr1001Cys
ENST00000682933.1:n.3121A>G
ENST00000683072.1:n.3631A>G
ENST00000683080.1:n.666A>G
ENST00000683125.1:c.3155A>G	ENSP00000507939.1:p.Tyr1052Cys
ENST00000683213.1:c.3050A>G	ENSP00000507751.1:p.Tyr1017Cys
ENST00000683220.1:c.3077A>G	ENSP00000507151.1:p.Tyr1026Cys
ENST00000683329.1:n.3850A>G
ENST00000683346.1:c.*2922A>G	ENSP00000507458.1:n.*2922A>G
ENST00000683409.1:n.1654A>G
ENST00000683459.1:n.3634A>G
ENST00000683590.1:c.2897-5568A>G	ENSP00000506820.1:n.2897-5568A>G
ENST00000683623.1:c.2954A>G	ENSP00000507702.1:p.Tyr985Cys
ENST00000683645.1:n.3598A>G
ENST00000683796.1:c.*2919A>G	ENSP00000508221.1:n.*2919A>G
ENST00000683802.1:n.5972A>G
ENST00000683833.1:c.3038A>G	ENSP00000506852.1:p.Tyr1013Cys
ENST00000683994.1:c.3047A>G	ENSP00000507181.1:p.Tyr1016Cys
ENST00000684290.1:c.*583A>G	ENSP00000507243.1:n.*583A>G
ENST00000684306.1:c.*2960A>G	ENSP00000508384.1:n.*2960A>G
ENST00000684341.1:n.3067A>G
ENST00000684383.1:c.*2685A>G	ENSP00000506863.1:n.*2685A>G
ENST00000684619.1:c.*2919A>G	ENSP00000508088.1:n.*2919A>G
ENST00000684705.1:n.168A>G
ENST00000684743.1:n.4078A>G
ENST00000260665.12:c.3047A>G MANE Select	ENSP00000260665.7:p.Tyr1016Cys
ENST00000260665.11:c.3047A>G	ENSP00000260665.7:p.Tyr1016Cys
NM_133259.3:c.3047A>G	NP_573566.2:p.Tyr1016Cys
XM_006711915.2:c.2969A>G	XP_006711978.1:p.Tyr990Cys
XM_006711916.2:c.3047A>G	XP_006711979.1:p.Tyr1016Cys
XM_011532473.1:c.3047A>G	XP_011530775.1:p.Tyr1016Cys
XM_011532474.1:c.3047A>G	XP_011530776.1:p.Tyr1016Cys
XM_006711916.3:c.3047A>G	XP_006711979.1:p.Tyr1016Cys
XM_017003117.1:c.2969A>G	XP_016858606.1:p.Tyr990Cys
XR_002958896.1:n.3089A>G
NM_133259.4:c.3047A>G MANE Select	NP_573566.2:p.Tyr1016Cys