Canonical Allele Identifier: CA425908473

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1146320
• ClinVar RCV Id: RCV001485485
• dbSNP Id: rs1388578801
• gnomAD v4: 2-43918055-A-G
• MyVariant Identifiers: chr2:g.44145194A>G (hg19) ; chr2:g.43918055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918055A>G , CM000664.2:g.43918055A>G	GRCh38
NC_000002.11:g.44145194A>G , CM000664.1:g.44145194A>G	GRCh37
NC_000002.10:g.43998698A>G	NCBI36
NG_008247.1:g.82951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.670T>C
ENST00000682295.1:c.303+201T>C	ENSP00000507499.1:n.303+201T>C
ENST00000682303.1:c.*2904T>C	ENSP00000508325.1:n.*2904T>C
ENST00000682308.1:c.3118T>C	ENSP00000507056.1:p.Leu1040=
ENST00000682480.1:c.3136T>C	ENSP00000508344.1:p.Leu1046=
ENST00000682546.1:c.3115T>C	ENSP00000508188.1:p.Leu1039=
ENST00000682585.1:c.3118T>C	ENSP00000506885.1:p.Leu1040=
ENST00000682595.1:n.3702T>C
ENST00000682607.1:c.1536T>C
ENST00000682779.1:c.3109T>C	ENSP00000507947.1:p.Leu1037=
ENST00000682845.1:n.2220T>C
ENST00000682885.1:c.3073T>C	ENSP00000508036.1:p.Leu1025=
ENST00000682933.1:n.3192T>C
ENST00000683072.1:n.3702T>C
ENST00000683080.1:n.737T>C
ENST00000683125.1:c.3226T>C	ENSP00000507939.1:p.Leu1076=
ENST00000683213.1:c.3121T>C	ENSP00000507751.1:p.Leu1041=
ENST00000683220.1:c.3148T>C	ENSP00000507151.1:p.Leu1050=
ENST00000683329.1:n.3921T>C
ENST00000683346.1:c.*2993T>C	ENSP00000507458.1:n.*2993T>C
ENST00000683409.1:n.1725T>C
ENST00000683459.1:n.3705T>C
ENST00000683590.1:c.2897-5497T>C	ENSP00000506820.1:n.2897-5497T>C
ENST00000683623.1:c.3025T>C	ENSP00000507702.1:p.Leu1009=
ENST00000683645.1:n.3669T>C
ENST00000683796.1:c.*2990T>C	ENSP00000508221.1:n.*2990T>C
ENST00000683802.1:n.6043T>C
ENST00000683833.1:c.3109T>C	ENSP00000506852.1:p.Leu1037=
ENST00000683994.1:c.3118T>C	ENSP00000507181.1:p.Leu1040=
ENST00000684290.1:c.*654T>C	ENSP00000507243.1:n.*654T>C
ENST00000684306.1:c.*3031T>C	ENSP00000508384.1:n.*3031T>C
ENST00000684341.1:n.3138T>C
ENST00000684383.1:c.*2756T>C	ENSP00000506863.1:n.*2756T>C
ENST00000684619.1:c.*2990T>C	ENSP00000508088.1:n.*2990T>C
ENST00000684705.1:n.239T>C
ENST00000684743.1:n.4149T>C
ENST00000260665.12:c.3118T>C MANE Select	ENSP00000260665.7:p.Leu1040=
ENST00000260665.11:c.3118T>C	ENSP00000260665.7:p.Leu1040=
NM_133259.3:c.3118T>C	NP_573566.2:p.Leu1040=
XM_006711915.2:c.3040T>C	XP_006711978.1:p.Leu1014=
XM_006711916.2:c.3118T>C	XP_006711979.1:p.Leu1040=
XM_011532473.1:c.3118T>C	XP_011530775.1:p.Leu1040=
XM_011532474.1:c.3118T>C	XP_011530776.1:p.Leu1040=
XM_006711916.3:c.3118T>C	XP_006711979.1:p.Leu1040=
XM_017003117.1:c.3040T>C	XP_016858606.1:p.Leu1014=
XR_002958896.1:n.3160T>C
NM_133259.4:c.3118T>C MANE Select	NP_573566.2:p.Leu1040=