Canonical Allele Identifier: CA346676221

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 445510
• ClinVar RCV Id: RCV000513682
• dbSNP Id: rs1553411854
• gnomAD v4: 2-43977271-C-T
• MyVariant Identifiers: chr2:g.44204410C>T (hg19) ; chr2:g.43977271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43977271C>T , CM000664.2:g.43977271C>T	GRCh38
NC_000002.11:g.44204410C>T , CM000664.1:g.44204410C>T	GRCh37
NC_000002.10:g.44057914C>T	NCBI36
NG_008247.1:g.23735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.475G>A	ENSP00000386562.2:p.Val159Met
ENST00000409946.6:c.475G>A	ENSP00000386234.1:p.Val159Met
ENST00000447246.2:c.475G>A	ENSP00000403637.2:p.Val159Met
ENST00000681959.1:n.89G>A
ENST00000681961.1:n.495G>A
ENST00000682104.1:c.349G>A	ENSP00000507716.1:p.Val117Met
ENST00000682303.1:c.*347G>A	ENSP00000508325.1:n.*347G>A
ENST00000682308.1:c.475G>A	ENSP00000507056.1:p.Val159Met
ENST00000682480.1:c.475G>A	ENSP00000508344.1:p.Val159Met
ENST00000682496.1:n.439G>A
ENST00000682546.1:c.475G>A	ENSP00000508188.1:p.Val159Met
ENST00000682585.1:c.475G>A	ENSP00000506885.1:p.Val159Met
ENST00000682595.1:n.490G>A
ENST00000682779.1:c.466G>A	ENSP00000507947.1:p.Val156Met
ENST00000682885.1:c.475G>A	ENSP00000508036.1:p.Val159Met
ENST00000683072.1:n.490G>A
ENST00000683082.1:n.493G>A
ENST00000683125.1:c.475G>A	ENSP00000507939.1:p.Val159Met
ENST00000683213.1:c.475G>A	ENSP00000507751.1:p.Val159Met
ENST00000683220.1:c.475G>A	ENSP00000507151.1:p.Val159Met
ENST00000683329.1:n.514G>A
ENST00000683346.1:c.*347G>A	ENSP00000507458.1:n.*347G>A
ENST00000683459.1:n.495G>A
ENST00000683590.1:c.475G>A	ENSP00000506820.1:p.Val159Met
ENST00000683623.1:c.475G>A	ENSP00000507702.1:p.Val159Met
ENST00000683796.1:c.*347G>A	ENSP00000508221.1:n.*347G>A
ENST00000683802.1:n.311G>A
ENST00000683833.1:c.466G>A	ENSP00000506852.1:p.Val156Met
ENST00000683934.1:c.129G>A
ENST00000683989.1:c.475G>A	ENSP00000507510.1:p.Val159Met
ENST00000683994.1:c.475G>A	ENSP00000507181.1:p.Val159Met
ENST00000684290.1:c.475G>A	ENSP00000507243.1:p.Val159Met
ENST00000684306.1:c.*388G>A	ENSP00000508384.1:n.*388G>A
ENST00000684329.1:n.517G>A
ENST00000684341.1:n.495G>A
ENST00000684383.1:c.*113G>A	ENSP00000506863.1:n.*113G>A
ENST00000684482.1:c.129G>A
ENST00000684619.1:c.*347G>A	ENSP00000508088.1:n.*347G>A
ENST00000684691.1:n.517G>A
ENST00000260665.12:c.475G>A MANE Select	ENSP00000260665.7:p.Val159Met
ENST00000260665.11:c.475G>A	ENSP00000260665.7:p.Val159Met
ENST00000409659.5:c.475G>A	ENSP00000386562.1:p.Val159Met
ENST00000409946.5:c.475G>A	ENSP00000386234.1:p.Val159Met
ENST00000447246.1:c.397G>A	ENSP00000403637.1:p.Val133Met
NM_133259.3:c.475G>A	NP_573566.2:p.Val159Met
XM_006711915.2:c.397G>A	XP_006711978.1:p.Val133Met
XM_006711916.2:c.475G>A	XP_006711979.1:p.Val159Met
XM_011532473.1:c.475G>A	XP_011530775.1:p.Val159Met
XM_011532474.1:c.475G>A	XP_011530776.1:p.Val159Met
XM_006711916.3:c.475G>A	XP_006711979.1:p.Val159Met
XM_017003117.1:c.397G>A	XP_016858606.1:p.Val133Met
XR_002958896.1:n.517G>A
NM_133259.4:c.475G>A MANE Select	NP_573566.2:p.Val159Met