Canonical Allele Identifier: CA346668092

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145212C>A (hg19) ; chr2:g.43918073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918073C>A , CM000664.2:g.43918073C>A	GRCh38
NC_000002.11:g.44145212C>A , CM000664.1:g.44145212C>A	GRCh37
NC_000002.10:g.43998716C>A	NCBI36
NG_008247.1:g.82933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.652G>T
ENST00000682295.1:c.303+183G>T	ENSP00000507499.1:n.303+183G>T
ENST00000682303.1:c.*2886G>T	ENSP00000508325.1:n.*2886G>T
ENST00000682308.1:c.3100G>T	ENSP00000507056.1:p.Asp1034Tyr
ENST00000682480.1:c.3118G>T	ENSP00000508344.1:p.Asp1040Tyr
ENST00000682546.1:c.3097G>T	ENSP00000508188.1:p.Asp1033Tyr
ENST00000682585.1:c.3100G>T	ENSP00000506885.1:p.Asp1034Tyr
ENST00000682595.1:n.3684G>T
ENST00000682607.1:c.1518G>T
ENST00000682779.1:c.3091G>T	ENSP00000507947.1:p.Asp1031Tyr
ENST00000682845.1:n.2202G>T
ENST00000682885.1:c.3055G>T	ENSP00000508036.1:p.Asp1019Tyr
ENST00000682933.1:n.3174G>T
ENST00000683072.1:n.3684G>T
ENST00000683080.1:n.719G>T
ENST00000683125.1:c.3208G>T	ENSP00000507939.1:p.Asp1070Tyr
ENST00000683213.1:c.3103G>T	ENSP00000507751.1:p.Asp1035Tyr
ENST00000683220.1:c.3130G>T	ENSP00000507151.1:p.Asp1044Tyr
ENST00000683329.1:n.3903G>T
ENST00000683346.1:c.*2975G>T	ENSP00000507458.1:n.*2975G>T
ENST00000683409.1:n.1707G>T
ENST00000683459.1:n.3687G>T
ENST00000683590.1:c.2897-5515G>T	ENSP00000506820.1:n.2897-5515G>T
ENST00000683623.1:c.3007G>T	ENSP00000507702.1:p.Asp1003Tyr
ENST00000683645.1:n.3651G>T
ENST00000683796.1:c.*2972G>T	ENSP00000508221.1:n.*2972G>T
ENST00000683802.1:n.6025G>T
ENST00000683833.1:c.3091G>T	ENSP00000506852.1:p.Asp1031Tyr
ENST00000683994.1:c.3100G>T	ENSP00000507181.1:p.Asp1034Tyr
ENST00000684290.1:c.*636G>T	ENSP00000507243.1:n.*636G>T
ENST00000684306.1:c.*3013G>T	ENSP00000508384.1:n.*3013G>T
ENST00000684341.1:n.3120G>T
ENST00000684383.1:c.*2738G>T	ENSP00000506863.1:n.*2738G>T
ENST00000684619.1:c.*2972G>T	ENSP00000508088.1:n.*2972G>T
ENST00000684705.1:n.221G>T
ENST00000684743.1:n.4131G>T
ENST00000260665.12:c.3100G>T MANE Select	ENSP00000260665.7:p.Asp1034Tyr
ENST00000260665.11:c.3100G>T	ENSP00000260665.7:p.Asp1034Tyr
NM_133259.3:c.3100G>T	NP_573566.2:p.Asp1034Tyr
XM_006711915.2:c.3022G>T	XP_006711978.1:p.Asp1008Tyr
XM_006711916.2:c.3100G>T	XP_006711979.1:p.Asp1034Tyr
XM_011532473.1:c.3100G>T	XP_011530775.1:p.Asp1034Tyr
XM_011532474.1:c.3100G>T	XP_011530776.1:p.Asp1034Tyr
XM_006711916.3:c.3100G>T	XP_006711979.1:p.Asp1034Tyr
XM_017003117.1:c.3022G>T	XP_016858606.1:p.Asp1008Tyr
XR_002958896.1:n.3142G>T
NM_133259.4:c.3100G>T MANE Select	NP_573566.2:p.Asp1034Tyr