Canonical Allele Identifier: CA346668055

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918066-T-C
• MyVariant Identifiers: chr2:g.44145205T>C (hg19) ; chr2:g.43918066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918066T>C , CM000664.2:g.43918066T>C	GRCh38
NC_000002.11:g.44145205T>C , CM000664.1:g.44145205T>C	GRCh37
NC_000002.10:g.43998709T>C	NCBI36
NG_008247.1:g.82940A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.659A>G
ENST00000682295.1:c.303+190A>G	ENSP00000507499.1:n.303+190A>G
ENST00000682303.1:c.*2893A>G	ENSP00000508325.1:n.*2893A>G
ENST00000682308.1:c.3107A>G	ENSP00000507056.1:p.Gln1036Arg
ENST00000682480.1:c.3125A>G	ENSP00000508344.1:p.Gln1042Arg
ENST00000682546.1:c.3104A>G	ENSP00000508188.1:p.Gln1035Arg
ENST00000682585.1:c.3107A>G	ENSP00000506885.1:p.Gln1036Arg
ENST00000682595.1:n.3691A>G
ENST00000682607.1:c.1525A>G
ENST00000682779.1:c.3098A>G	ENSP00000507947.1:p.Gln1033Arg
ENST00000682845.1:n.2209A>G
ENST00000682885.1:c.3062A>G	ENSP00000508036.1:p.Gln1021Arg
ENST00000682933.1:n.3181A>G
ENST00000683072.1:n.3691A>G
ENST00000683080.1:n.726A>G
ENST00000683125.1:c.3215A>G	ENSP00000507939.1:p.Gln1072Arg
ENST00000683213.1:c.3110A>G	ENSP00000507751.1:p.Gln1037Arg
ENST00000683220.1:c.3137A>G	ENSP00000507151.1:p.Gln1046Arg
ENST00000683329.1:n.3910A>G
ENST00000683346.1:c.*2982A>G	ENSP00000507458.1:n.*2982A>G
ENST00000683409.1:n.1714A>G
ENST00000683459.1:n.3694A>G
ENST00000683590.1:c.2897-5508A>G	ENSP00000506820.1:n.2897-5508A>G
ENST00000683623.1:c.3014A>G	ENSP00000507702.1:p.Gln1005Arg
ENST00000683645.1:n.3658A>G
ENST00000683796.1:c.*2979A>G	ENSP00000508221.1:n.*2979A>G
ENST00000683802.1:n.6032A>G
ENST00000683833.1:c.3098A>G	ENSP00000506852.1:p.Gln1033Arg
ENST00000683994.1:c.3107A>G	ENSP00000507181.1:p.Gln1036Arg
ENST00000684290.1:c.*643A>G	ENSP00000507243.1:n.*643A>G
ENST00000684306.1:c.*3020A>G	ENSP00000508384.1:n.*3020A>G
ENST00000684341.1:n.3127A>G
ENST00000684383.1:c.*2745A>G	ENSP00000506863.1:n.*2745A>G
ENST00000684619.1:c.*2979A>G	ENSP00000508088.1:n.*2979A>G
ENST00000684705.1:n.228A>G
ENST00000684743.1:n.4138A>G
ENST00000260665.12:c.3107A>G MANE Select	ENSP00000260665.7:p.Gln1036Arg
ENST00000260665.11:c.3107A>G	ENSP00000260665.7:p.Gln1036Arg
NM_133259.3:c.3107A>G	NP_573566.2:p.Gln1036Arg
XM_006711915.2:c.3029A>G	XP_006711978.1:p.Gln1010Arg
XM_006711916.2:c.3107A>G	XP_006711979.1:p.Gln1036Arg
XM_011532473.1:c.3107A>G	XP_011530775.1:p.Gln1036Arg
XM_011532474.1:c.3107A>G	XP_011530776.1:p.Gln1036Arg
XM_006711916.3:c.3107A>G	XP_006711979.1:p.Gln1036Arg
XM_017003117.1:c.3029A>G	XP_016858606.1:p.Gln1010Arg
XR_002958896.1:n.3149A>G
NM_133259.4:c.3107A>G MANE Select	NP_573566.2:p.Gln1036Arg