Canonical Allele Identifier: CA346667994

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918055-A-C
• MyVariant Identifiers: chr2:g.44145194A>C (hg19) ; chr2:g.43918055A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.670T>G
ENST00000682295.1:c.303+201T>G	ENSP00000507499.1:n.303+201T>G
ENST00000682303.1:c.*2904T>G	ENSP00000508325.1:n.*2904T>G
ENST00000682308.1:c.3118T>G	ENSP00000507056.1:p.Leu1040Val
ENST00000682480.1:c.3136T>G	ENSP00000508344.1:p.Leu1046Val
ENST00000682546.1:c.3115T>G	ENSP00000508188.1:p.Leu1039Val
ENST00000682585.1:c.3118T>G	ENSP00000506885.1:p.Leu1040Val
ENST00000682595.1:n.3702T>G
ENST00000682607.1:c.1536T>G
ENST00000682779.1:c.3109T>G	ENSP00000507947.1:p.Leu1037Val
ENST00000682845.1:n.2220T>G
ENST00000682885.1:c.3073T>G	ENSP00000508036.1:p.Leu1025Val
ENST00000682933.1:n.3192T>G
ENST00000683072.1:n.3702T>G
ENST00000683080.1:n.737T>G
ENST00000683125.1:c.3226T>G	ENSP00000507939.1:p.Leu1076Val
ENST00000683213.1:c.3121T>G	ENSP00000507751.1:p.Leu1041Val
ENST00000683220.1:c.3148T>G	ENSP00000507151.1:p.Leu1050Val
ENST00000683329.1:n.3921T>G
ENST00000683346.1:c.*2993T>G	ENSP00000507458.1:n.*2993T>G
ENST00000683409.1:n.1725T>G
ENST00000683459.1:n.3705T>G
ENST00000683590.1:c.2897-5497T>G	ENSP00000506820.1:n.2897-5497T>G
ENST00000683623.1:c.3025T>G	ENSP00000507702.1:p.Leu1009Val
ENST00000683645.1:n.3669T>G
ENST00000683796.1:c.*2990T>G	ENSP00000508221.1:n.*2990T>G
ENST00000683802.1:n.6043T>G
ENST00000683833.1:c.3109T>G	ENSP00000506852.1:p.Leu1037Val
ENST00000683994.1:c.3118T>G	ENSP00000507181.1:p.Leu1040Val
ENST00000684290.1:c.*654T>G	ENSP00000507243.1:n.*654T>G
ENST00000684306.1:c.*3031T>G	ENSP00000508384.1:n.*3031T>G
ENST00000684341.1:n.3138T>G
ENST00000684383.1:c.*2756T>G	ENSP00000506863.1:n.*2756T>G
ENST00000684619.1:c.*2990T>G	ENSP00000508088.1:n.*2990T>G
ENST00000684705.1:n.239T>G
ENST00000684743.1:n.4149T>G
ENST00000260665.12:c.3118T>G MANE Select	ENSP00000260665.7:p.Leu1040Val
ENST00000260665.11:c.3118T>G	ENSP00000260665.7:p.Leu1040Val
NM_133259.3:c.3118T>G	NP_573566.2:p.Leu1040Val
XM_006711915.2:c.3040T>G	XP_006711978.1:p.Leu1014Val
XM_006711916.2:c.3118T>G	XP_006711979.1:p.Leu1040Val
XM_011532473.1:c.3118T>G	XP_011530775.1:p.Leu1040Val
XM_011532474.1:c.3118T>G	XP_011530776.1:p.Leu1040Val
XM_006711916.3:c.3118T>G	XP_006711979.1:p.Leu1040Val
XM_017003117.1:c.3040T>G	XP_016858606.1:p.Leu1014Val
XR_002958896.1:n.3160T>G
NM_133259.4:c.3118T>G MANE Select	NP_573566.2:p.Leu1040Val