Canonical Allele Identifier: CA346668368

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671544216
• gnomAD v2: 2-44145272-A-C
• gnomAD v3: 2-43918133-A-C
• gnomAD v4: 2-43918133-A-C
• MyVariant Identifiers: chr2:g.44145272A>C (hg19) ; chr2:g.43918133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918133A>C , CM000664.2:g.43918133A>C	GRCh38
NC_000002.11:g.44145272A>C , CM000664.1:g.44145272A>C	GRCh37
NC_000002.10:g.43998776A>C	NCBI36
NG_008247.1:g.82873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.592T>G
ENST00000682295.1:c.303+123T>G	ENSP00000507499.1:n.303+123T>G
ENST00000682303.1:c.*2826T>G	ENSP00000508325.1:n.*2826T>G
ENST00000682308.1:c.3040T>G	ENSP00000507056.1:p.Leu1014Val
ENST00000682480.1:c.3058T>G	ENSP00000508344.1:p.Leu1020Val
ENST00000682546.1:c.3037T>G	ENSP00000508188.1:p.Leu1013Val
ENST00000682585.1:c.3040T>G	ENSP00000506885.1:p.Leu1014Val
ENST00000682595.1:n.3624T>G
ENST00000682607.1:c.1458T>G
ENST00000682779.1:c.3031T>G	ENSP00000507947.1:p.Leu1011Val
ENST00000682845.1:n.2142T>G
ENST00000682885.1:c.2995T>G	ENSP00000508036.1:p.Leu999Val
ENST00000682933.1:n.3114T>G
ENST00000683072.1:n.3624T>G
ENST00000683080.1:n.659T>G
ENST00000683125.1:c.3148T>G	ENSP00000507939.1:p.Leu1050Val
ENST00000683213.1:c.3043T>G	ENSP00000507751.1:p.Leu1015Val
ENST00000683220.1:c.3070T>G	ENSP00000507151.1:p.Leu1024Val
ENST00000683329.1:n.3843T>G
ENST00000683346.1:c.*2915T>G	ENSP00000507458.1:n.*2915T>G
ENST00000683409.1:n.1647T>G
ENST00000683459.1:n.3627T>G
ENST00000683590.1:c.2897-5575T>G	ENSP00000506820.1:n.2897-5575T>G
ENST00000683623.1:c.2947T>G	ENSP00000507702.1:p.Leu983Val
ENST00000683645.1:n.3591T>G
ENST00000683796.1:c.*2912T>G	ENSP00000508221.1:n.*2912T>G
ENST00000683802.1:n.5965T>G
ENST00000683833.1:c.3031T>G	ENSP00000506852.1:p.Leu1011Val
ENST00000683994.1:c.3040T>G	ENSP00000507181.1:p.Leu1014Val
ENST00000684290.1:c.*576T>G	ENSP00000507243.1:n.*576T>G
ENST00000684306.1:c.*2953T>G	ENSP00000508384.1:n.*2953T>G
ENST00000684341.1:n.3060T>G
ENST00000684383.1:c.*2678T>G	ENSP00000506863.1:n.*2678T>G
ENST00000684619.1:c.*2912T>G	ENSP00000508088.1:n.*2912T>G
ENST00000684705.1:n.161T>G
ENST00000684743.1:n.4071T>G
ENST00000260665.12:c.3040T>G MANE Select	ENSP00000260665.7:p.Leu1014Val
ENST00000260665.11:c.3040T>G	ENSP00000260665.7:p.Leu1014Val
NM_133259.3:c.3040T>G	NP_573566.2:p.Leu1014Val
XM_006711915.2:c.2962T>G	XP_006711978.1:p.Leu988Val
XM_006711916.2:c.3040T>G	XP_006711979.1:p.Leu1014Val
XM_011532473.1:c.3040T>G	XP_011530775.1:p.Leu1014Val
XM_011532474.1:c.3040T>G	XP_011530776.1:p.Leu1014Val
XM_006711916.3:c.3040T>G	XP_006711979.1:p.Leu1014Val
XM_017003117.1:c.2962T>G	XP_016858606.1:p.Leu988Val
XR_002958896.1:n.3082T>G
NM_133259.4:c.3040T>G MANE Select	NP_573566.2:p.Leu1014Val