Canonical Allele Identifier: CA346668057

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.659A>C
ENST00000682295.1:c.303+190A>C	ENSP00000507499.1:n.303+190A>C
ENST00000682303.1:c.*2893A>C	ENSP00000508325.1:n.*2893A>C
ENST00000682308.1:c.3107A>C	ENSP00000507056.1:p.Gln1036Pro
ENST00000682480.1:c.3125A>C	ENSP00000508344.1:p.Gln1042Pro
ENST00000682546.1:c.3104A>C	ENSP00000508188.1:p.Gln1035Pro
ENST00000682585.1:c.3107A>C	ENSP00000506885.1:p.Gln1036Pro
ENST00000682595.1:n.3691A>C
ENST00000682607.1:c.1525A>C
ENST00000682779.1:c.3098A>C	ENSP00000507947.1:p.Gln1033Pro
ENST00000682845.1:n.2209A>C
ENST00000682885.1:c.3062A>C	ENSP00000508036.1:p.Gln1021Pro
ENST00000682933.1:n.3181A>C
ENST00000683072.1:n.3691A>C
ENST00000683080.1:n.726A>C
ENST00000683125.1:c.3215A>C	ENSP00000507939.1:p.Gln1072Pro
ENST00000683213.1:c.3110A>C	ENSP00000507751.1:p.Gln1037Pro
ENST00000683220.1:c.3137A>C	ENSP00000507151.1:p.Gln1046Pro
ENST00000683329.1:n.3910A>C
ENST00000683346.1:c.*2982A>C	ENSP00000507458.1:n.*2982A>C
ENST00000683409.1:n.1714A>C
ENST00000683459.1:n.3694A>C
ENST00000683590.1:c.2897-5508A>C	ENSP00000506820.1:n.2897-5508A>C
ENST00000683623.1:c.3014A>C	ENSP00000507702.1:p.Gln1005Pro
ENST00000683645.1:n.3658A>C
ENST00000683796.1:c.*2979A>C	ENSP00000508221.1:n.*2979A>C
ENST00000683802.1:n.6032A>C
ENST00000683833.1:c.3098A>C	ENSP00000506852.1:p.Gln1033Pro
ENST00000683994.1:c.3107A>C	ENSP00000507181.1:p.Gln1036Pro
ENST00000684290.1:c.*643A>C	ENSP00000507243.1:n.*643A>C
ENST00000684306.1:c.*3020A>C	ENSP00000508384.1:n.*3020A>C
ENST00000684341.1:n.3127A>C
ENST00000684383.1:c.*2745A>C	ENSP00000506863.1:n.*2745A>C
ENST00000684619.1:c.*2979A>C	ENSP00000508088.1:n.*2979A>C
ENST00000684705.1:n.228A>C
ENST00000684743.1:n.4138A>C
ENST00000260665.12:c.3107A>C MANE Select	ENSP00000260665.7:p.Gln1036Pro
ENST00000260665.11:c.3107A>C	ENSP00000260665.7:p.Gln1036Pro
NM_133259.3:c.3107A>C	NP_573566.2:p.Gln1036Pro
XM_006711915.2:c.3029A>C	XP_006711978.1:p.Gln1010Pro
XM_006711916.2:c.3107A>C	XP_006711979.1:p.Gln1036Pro
XM_011532473.1:c.3107A>C	XP_011530775.1:p.Gln1036Pro
XM_011532474.1:c.3107A>C	XP_011530776.1:p.Gln1036Pro
XM_006711916.3:c.3107A>C	XP_006711979.1:p.Gln1036Pro
XM_017003117.1:c.3029A>C	XP_016858606.1:p.Gln1010Pro
XR_002958896.1:n.3149A>C
NM_133259.4:c.3107A>C MANE Select	NP_573566.2:p.Gln1036Pro