Canonical Allele Identifier: CA1638205

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 895450
• ClinVar RCV Id: RCV001137556 ; RCV001393670
• dbSNP Id: rs768083517
• ExAC: 2:44145219 T / G
• gnomAD v2: 2-44145219-T-G
• gnomAD v3: 2-43918080-T-G
• gnomAD v4: 2-43918080-T-G
• MyVariant Identifiers: chr2:g.44145219T>G (hg19) ; chr2:g.43918080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918080T>G , CM000664.2:g.43918080T>G	GRCh38
NC_000002.11:g.44145219T>G , CM000664.1:g.44145219T>G	GRCh37
NC_000002.10:g.43998723T>G	NCBI36
NG_008247.1:g.82926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.645A>C
ENST00000682295.1:c.303+176A>C	ENSP00000507499.1:n.303+176A>C
ENST00000682303.1:c.*2879A>C	ENSP00000508325.1:n.*2879A>C
ENST00000682308.1:c.3093A>C	ENSP00000507056.1:p.Thr1031=
ENST00000682480.1:c.3111A>C	ENSP00000508344.1:p.Thr1037=
ENST00000682546.1:c.3090A>C	ENSP00000508188.1:p.Thr1030=
ENST00000682585.1:c.3093A>C	ENSP00000506885.1:p.Thr1031=
ENST00000682595.1:n.3677A>C
ENST00000682607.1:c.1511A>C
ENST00000682779.1:c.3084A>C	ENSP00000507947.1:p.Thr1028=
ENST00000682845.1:n.2195A>C
ENST00000682885.1:c.3048A>C	ENSP00000508036.1:p.Thr1016=
ENST00000682933.1:n.3167A>C
ENST00000683072.1:n.3677A>C
ENST00000683080.1:n.712A>C
ENST00000683125.1:c.3201A>C	ENSP00000507939.1:p.Thr1067=
ENST00000683213.1:c.3096A>C	ENSP00000507751.1:p.Thr1032=
ENST00000683220.1:c.3123A>C	ENSP00000507151.1:p.Thr1041=
ENST00000683329.1:n.3896A>C
ENST00000683346.1:c.*2968A>C	ENSP00000507458.1:n.*2968A>C
ENST00000683409.1:n.1700A>C
ENST00000683459.1:n.3680A>C
ENST00000683590.1:c.2897-5522A>C	ENSP00000506820.1:n.2897-5522A>C
ENST00000683623.1:c.3000A>C	ENSP00000507702.1:p.Thr1000=
ENST00000683645.1:n.3644A>C
ENST00000683796.1:c.*2965A>C	ENSP00000508221.1:n.*2965A>C
ENST00000683802.1:n.6018A>C
ENST00000683833.1:c.3084A>C	ENSP00000506852.1:p.Thr1028=
ENST00000683994.1:c.3093A>C	ENSP00000507181.1:p.Thr1031=
ENST00000684290.1:c.*629A>C	ENSP00000507243.1:n.*629A>C
ENST00000684306.1:c.*3006A>C	ENSP00000508384.1:n.*3006A>C
ENST00000684341.1:n.3113A>C
ENST00000684383.1:c.*2731A>C	ENSP00000506863.1:n.*2731A>C
ENST00000684619.1:c.*2965A>C	ENSP00000508088.1:n.*2965A>C
ENST00000684705.1:n.214A>C
ENST00000684743.1:n.4124A>C
ENST00000260665.12:c.3093A>C MANE Select	ENSP00000260665.7:p.Thr1031=
ENST00000260665.11:c.3093A>C	ENSP00000260665.7:p.Thr1031=
NM_133259.3:c.3093A>C	NP_573566.2:p.Thr1031=
XM_006711915.2:c.3015A>C	XP_006711978.1:p.Thr1005=
XM_006711916.2:c.3093A>C	XP_006711979.1:p.Thr1031=
XM_011532473.1:c.3093A>C	XP_011530775.1:p.Thr1031=
XM_011532474.1:c.3093A>C	XP_011530776.1:p.Thr1031=
XM_006711916.3:c.3093A>C	XP_006711979.1:p.Thr1031=
XM_017003117.1:c.3015A>C	XP_016858606.1:p.Thr1005=
XR_002958896.1:n.3135A>C
NM_133259.4:c.3093A>C MANE Select	NP_573566.2:p.Thr1031=