Canonical Allele Identifier: CA346668526

Gene: LRPPRC

Linked Data

• dbSNP Id: rs369371090
• gnomAD v2: 2-44145460-T-C
• gnomAD v4: 2-43918321-T-C
• MyVariant Identifiers: chr2:g.44145460T>C (hg19) ; chr2:g.43918321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918321T>C , CM000664.2:g.43918321T>C	GRCh38
NC_000002.11:g.44145460T>C , CM000664.1:g.44145460T>C	GRCh37
NC_000002.10:g.43998964T>C	NCBI36
NG_008247.1:g.82685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.526A>G
ENST00000682295.1:c.238A>G	ENSP00000507499.1:p.Thr80Ala
ENST00000682303.1:c.*2760A>G	ENSP00000508325.1:n.*2760A>G
ENST00000682308.1:c.2974A>G	ENSP00000507056.1:p.Thr992Ala
ENST00000682480.1:c.2974A>G	ENSP00000508344.1:p.Thr992Ala
ENST00000682546.1:c.2971A>G	ENSP00000508188.1:p.Thr991Ala
ENST00000682585.1:c.2974A>G	ENSP00000506885.1:p.Thr992Ala
ENST00000682595.1:n.3558A>G
ENST00000682607.1:c.1392A>G
ENST00000682779.1:c.2965A>G	ENSP00000507947.1:p.Thr989Ala
ENST00000682845.1:n.2076A>G
ENST00000682885.1:c.2929A>G	ENSP00000508036.1:p.Thr977Ala
ENST00000682933.1:n.3048A>G
ENST00000683072.1:n.3558A>G
ENST00000683080.1:n.593A>G
ENST00000683125.1:c.3082A>G	ENSP00000507939.1:p.Thr1028Ala
ENST00000683213.1:c.2977A>G	ENSP00000507751.1:p.Thr993Ala
ENST00000683220.1:c.3004A>G	ENSP00000507151.1:p.Thr1002Ala
ENST00000683236.1:c.304A>G	ENSP00000506891.1:n.304A>G
ENST00000683329.1:n.3777A>G
ENST00000683346.1:c.*2849A>G	ENSP00000507458.1:n.*2849A>G
ENST00000683409.1:n.1581A>G
ENST00000683459.1:n.3561A>G
ENST00000683590.1:c.2897-5763A>G	ENSP00000506820.1:n.2897-5763A>G
ENST00000683623.1:c.2881A>G	ENSP00000507702.1:p.Thr961Ala
ENST00000683645.1:n.3525A>G
ENST00000683796.1:c.*2846A>G	ENSP00000508221.1:n.*2846A>G
ENST00000683802.1:n.5899A>G
ENST00000683833.1:c.2965A>G	ENSP00000506852.1:p.Thr989Ala
ENST00000683994.1:c.2974A>G	ENSP00000507181.1:p.Thr992Ala
ENST00000684290.1:c.*510A>G	ENSP00000507243.1:n.*510A>G
ENST00000684306.1:c.*2887A>G	ENSP00000508384.1:n.*2887A>G
ENST00000684341.1:n.2994A>G
ENST00000684383.1:c.*2612A>G	ENSP00000506863.1:n.*2612A>G
ENST00000684619.1:c.*2846A>G	ENSP00000508088.1:n.*2846A>G
ENST00000684705.1:n.95A>G
ENST00000684743.1:n.4005A>G
ENST00000260665.12:c.2974A>G MANE Select	ENSP00000260665.7:p.Thr992Ala
ENST00000260665.11:c.2974A>G	ENSP00000260665.7:p.Thr992Ala
NM_133259.3:c.2974A>G	NP_573566.2:p.Thr992Ala
XM_006711915.2:c.2896A>G	XP_006711978.1:p.Thr966Ala
XM_006711916.2:c.2974A>G	XP_006711979.1:p.Thr992Ala
XM_011532473.1:c.2974A>G	XP_011530775.1:p.Thr992Ala
XM_011532474.1:c.2974A>G	XP_011530776.1:p.Thr992Ala
XM_006711916.3:c.2974A>G	XP_006711979.1:p.Thr992Ala
XM_017003117.1:c.2896A>G	XP_016858606.1:p.Thr966Ala
XR_002958896.1:n.3016A>G
NM_133259.4:c.2974A>G MANE Select	NP_573566.2:p.Thr992Ala