Canonical Allele Identifier: CA346668279

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1266193823
• gnomAD v4: 2-43918114-T-G
• MyVariant Identifiers: chr2:g.44145253T>G (hg19) ; chr2:g.43918114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918114T>G , CM000664.2:g.43918114T>G	GRCh38
NC_000002.11:g.44145253T>G , CM000664.1:g.44145253T>G	GRCh37
NC_000002.10:g.43998757T>G	NCBI36
NG_008247.1:g.82892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.611A>C
ENST00000682295.1:c.303+142A>C	ENSP00000507499.1:n.303+142A>C
ENST00000682303.1:c.*2845A>C	ENSP00000508325.1:n.*2845A>C
ENST00000682308.1:c.3059A>C	ENSP00000507056.1:p.Lys1020Thr
ENST00000682480.1:c.3077A>C	ENSP00000508344.1:p.Lys1026Thr
ENST00000682546.1:c.3056A>C	ENSP00000508188.1:p.Lys1019Thr
ENST00000682585.1:c.3059A>C	ENSP00000506885.1:p.Lys1020Thr
ENST00000682595.1:n.3643A>C
ENST00000682607.1:c.1477A>C
ENST00000682779.1:c.3050A>C	ENSP00000507947.1:p.Lys1017Thr
ENST00000682845.1:n.2161A>C
ENST00000682885.1:c.3014A>C	ENSP00000508036.1:p.Lys1005Thr
ENST00000682933.1:n.3133A>C
ENST00000683072.1:n.3643A>C
ENST00000683080.1:n.678A>C
ENST00000683125.1:c.3167A>C	ENSP00000507939.1:p.Lys1056Thr
ENST00000683213.1:c.3062A>C	ENSP00000507751.1:p.Lys1021Thr
ENST00000683220.1:c.3089A>C	ENSP00000507151.1:p.Lys1030Thr
ENST00000683329.1:n.3862A>C
ENST00000683346.1:c.*2934A>C	ENSP00000507458.1:n.*2934A>C
ENST00000683409.1:n.1666A>C
ENST00000683459.1:n.3646A>C
ENST00000683590.1:c.2897-5556A>C	ENSP00000506820.1:n.2897-5556A>C
ENST00000683623.1:c.2966A>C	ENSP00000507702.1:p.Lys989Thr
ENST00000683645.1:n.3610A>C
ENST00000683796.1:c.*2931A>C	ENSP00000508221.1:n.*2931A>C
ENST00000683802.1:n.5984A>C
ENST00000683833.1:c.3050A>C	ENSP00000506852.1:p.Lys1017Thr
ENST00000683994.1:c.3059A>C	ENSP00000507181.1:p.Lys1020Thr
ENST00000684290.1:c.*595A>C	ENSP00000507243.1:n.*595A>C
ENST00000684306.1:c.*2972A>C	ENSP00000508384.1:n.*2972A>C
ENST00000684341.1:n.3079A>C
ENST00000684383.1:c.*2697A>C	ENSP00000506863.1:n.*2697A>C
ENST00000684619.1:c.*2931A>C	ENSP00000508088.1:n.*2931A>C
ENST00000684705.1:n.180A>C
ENST00000684743.1:n.4090A>C
ENST00000260665.12:c.3059A>C MANE Select	ENSP00000260665.7:p.Lys1020Thr
ENST00000260665.11:c.3059A>C	ENSP00000260665.7:p.Lys1020Thr
NM_133259.3:c.3059A>C	NP_573566.2:p.Lys1020Thr
XM_006711915.2:c.2981A>C	XP_006711978.1:p.Lys994Thr
XM_006711916.2:c.3059A>C	XP_006711979.1:p.Lys1020Thr
XM_011532473.1:c.3059A>C	XP_011530775.1:p.Lys1020Thr
XM_011532474.1:c.3059A>C	XP_011530776.1:p.Lys1020Thr
XM_006711916.3:c.3059A>C	XP_006711979.1:p.Lys1020Thr
XM_017003117.1:c.2981A>C	XP_016858606.1:p.Lys994Thr
XR_002958896.1:n.3101A>C
NM_133259.4:c.3059A>C MANE Select	NP_573566.2:p.Lys1020Thr