Canonical Allele Identifier: CA46462501

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1145117
• ClinVar RCV Id: RCV001483874
• dbSNP Id: rs1034440304
• gnomAD v2: 2-44175312-G-A
• gnomAD v3: 2-43948173-G-A
• gnomAD v4: 2-43948173-G-A
• MyVariant Identifiers: chr2:g.44175312G>A (hg19) ; chr2:g.44175312_44175316delinsATAGA (hg19) ; chr2:g.43948173G>A (hg38) ; chr2:g.43948173_43948177delinsATAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948173G>A , CM000664.2:g.43948173G>A	GRCh38
NC_000002.11:g.44175312G>A , CM000664.1:g.44175312G>A	GRCh37
NC_000002.10:g.44028816G>A	NCBI36
NG_008247.1:g.52833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1869C>T	ENSP00000386562.2:p.Tyr623=
ENST00000447246.2:c.1869C>T	ENSP00000403637.2:p.Tyr623=
ENST00000467058.2:n.598C>T
ENST00000681959.1:n.1483C>T
ENST00000681961.1:n.1889C>T
ENST00000682104.1:c.1743C>T	ENSP00000507716.1:p.Tyr581=
ENST00000682303.1:c.*1741C>T	ENSP00000508325.1:n.*1741C>T
ENST00000682308.1:c.1869C>T	ENSP00000507056.1:p.Tyr623=
ENST00000682480.1:c.1869C>T	ENSP00000508344.1:p.Tyr623=
ENST00000682546.1:c.1866C>T	ENSP00000508188.1:p.Tyr622=
ENST00000682585.1:c.1869C>T	ENSP00000506885.1:p.Tyr623=
ENST00000682595.1:n.2451C>T
ENST00000682607.1:c.287C>T
ENST00000682779.1:c.1860C>T	ENSP00000507947.1:p.Tyr620=
ENST00000682885.1:c.1869C>T	ENSP00000508036.1:p.Tyr623=
ENST00000682933.1:n.1943C>T
ENST00000683072.1:n.2451C>T
ENST00000683082.1:n.1887C>T
ENST00000683125.1:c.1869C>T	ENSP00000507939.1:p.Tyr623=
ENST00000683213.1:c.1872C>T	ENSP00000507751.1:p.Tyr624=
ENST00000683220.1:c.1899C>T	ENSP00000507151.1:p.Tyr633=
ENST00000683329.1:n.2672C>T
ENST00000683346.1:c.*1744C>T	ENSP00000507458.1:n.*1744C>T
ENST00000683459.1:n.2456C>T
ENST00000683590.1:c.1869C>T	ENSP00000506820.1:p.Tyr623=
ENST00000683623.1:c.1869C>T	ENSP00000507702.1:p.Tyr623=
ENST00000683645.1:n.2420C>T
ENST00000683694.1:n.620C>T
ENST00000683796.1:c.*1741C>T	ENSP00000508221.1:n.*1741C>T
ENST00000683802.1:n.4794C>T
ENST00000683833.1:c.1860C>T	ENSP00000506852.1:p.Tyr620=
ENST00000683934.1:c.1755C>T
ENST00000683989.1:c.1869C>T	ENSP00000507510.1:p.Tyr623=
ENST00000683994.1:c.1869C>T	ENSP00000507181.1:p.Tyr623=
ENST00000684290.1:c.1869C>T	ENSP00000507243.1:p.Tyr623=
ENST00000684306.1:c.*1782C>T	ENSP00000508384.1:n.*1782C>T
ENST00000684341.1:n.1889C>T
ENST00000684383.1:c.*1507C>T	ENSP00000506863.1:n.*1507C>T
ENST00000684482.1:c.4338C>T
ENST00000684619.1:c.*1741C>T	ENSP00000508088.1:n.*1741C>T
ENST00000684743.1:n.2900C>T
ENST00000260665.12:c.1869C>T MANE Select	ENSP00000260665.7:p.Tyr623=
ENST00000260665.11:c.1869C>T	ENSP00000260665.7:p.Tyr623=
NM_133259.3:c.1869C>T	NP_573566.2:p.Tyr623=
XM_006711915.2:c.1791C>T	XP_006711978.1:p.Tyr597=
XM_006711916.2:c.1869C>T	XP_006711979.1:p.Tyr623=
XM_011532473.1:c.1869C>T	XP_011530775.1:p.Tyr623=
XM_011532474.1:c.1869C>T	XP_011530776.1:p.Tyr623=
XM_006711916.3:c.1869C>T	XP_006711979.1:p.Tyr623=
XM_017003117.1:c.1791C>T	XP_016858606.1:p.Tyr597=
XR_002958896.1:n.1911C>T
NM_133259.4:c.1869C>T MANE Select	NP_573566.2:p.Tyr623=