Canonical Allele Identifier: CA1637955

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1672350
• ClinVar RCV Id: RCV002210483
• dbSNP Id: rs774104350
• ExAC: 2:44126421 G / A
• gnomAD v2: 2-44126421-G-A
• gnomAD v4: 2-43899282-G-A
• MyVariant Identifiers: chr2:g.44126421G>A (hg19) ; chr2:g.43899282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899282G>A , CM000664.2:g.43899282G>A	GRCh38
NC_000002.11:g.44126421G>A , CM000664.1:g.44126421G>A	GRCh37
NC_000002.10:g.43979925G>A	NCBI36
NG_008247.1:g.101724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.193C>T
ENST00000472420.6:n.841C>T
ENST00000483489.2:n.193C>T
ENST00000681993.1:n.1314C>T
ENST00000682303.1:c.*3548C>T	ENSP00000508325.1:n.*3548C>T
ENST00000682308.1:c.3762C>T	ENSP00000507056.1:p.Val1254=
ENST00000682434.1:n.1313C>T
ENST00000682480.1:c.3780C>T	ENSP00000508344.1:p.Val1260=
ENST00000682546.1:c.3759C>T	ENSP00000508188.1:p.Val1253=
ENST00000682585.1:c.3762C>T	ENSP00000506885.1:p.Val1254=
ENST00000682595.1:n.4346C>T
ENST00000682607.1:c.2180C>T
ENST00000682612.1:c.614C>T
ENST00000682779.1:c.3753C>T	ENSP00000507947.1:p.Val1251=
ENST00000682845.1:n.2864C>T
ENST00000682885.1:c.3717C>T	ENSP00000508036.1:p.Val1239=
ENST00000682933.1:n.3836C>T
ENST00000683002.1:c.614C>T
ENST00000683072.1:n.4346C>T
ENST00000683080.1:n.1381C>T
ENST00000683125.1:c.3870C>T	ENSP00000507939.1:p.Val1290=
ENST00000683213.1:c.3765C>T	ENSP00000507751.1:p.Val1255=
ENST00000683220.1:c.3792C>T	ENSP00000507151.1:p.Val1264=
ENST00000683329.1:n.4565C>T
ENST00000683346.1:c.*3637C>T	ENSP00000507458.1:n.*3637C>T
ENST00000683409.1:n.2369C>T
ENST00000683459.1:n.4349C>T
ENST00000683528.1:c.690C>T
ENST00000683590.1:c.3510C>T	ENSP00000506820.1:p.Val1170=
ENST00000683623.1:c.3669C>T	ENSP00000507702.1:p.Val1223=
ENST00000683645.1:n.4313C>T
ENST00000683796.1:c.*3634C>T	ENSP00000508221.1:n.*3634C>T
ENST00000683802.1:n.6687C>T
ENST00000683833.1:c.3753C>T	ENSP00000506852.1:p.Val1251=
ENST00000683994.1:c.3762C>T	ENSP00000507181.1:p.Val1254=
ENST00000684290.1:c.*1298C>T	ENSP00000507243.1:n.*1298C>T
ENST00000684306.1:c.*3675C>T	ENSP00000508384.1:n.*3675C>T
ENST00000684341.1:n.3782C>T
ENST00000684383.1:c.*3400C>T	ENSP00000506863.1:n.*3400C>T
ENST00000684418.1:n.4943C>T
ENST00000684433.1:n.146C>T
ENST00000684454.1:n.3112C>T
ENST00000684619.1:c.*3634C>T	ENSP00000508088.1:n.*3634C>T
ENST00000684743.1:n.6507C>T
ENST00000260665.12:c.3762C>T MANE Select	ENSP00000260665.7:p.Val1254=
ENST00000260665.11:c.3762C>T	ENSP00000260665.7:p.Val1254=
ENST00000419884.5:c.3C>T	ENSP00000414207.1:p.Val1=
ENST00000463456.5:n.2805C>T
ENST00000472420.5:n.159C>T
ENST00000483489.1:n.236C>T
NM_133259.3:c.3762C>T	NP_573566.2:p.Val1254=
XM_006711915.2:c.3684C>T	XP_006711978.1:p.Val1228=
XM_011532473.1:c.3762C>T	XP_011530775.1:p.Val1254=
XM_011532474.1:c.3762C>T	XP_011530776.1:p.Val1254=
XM_017003117.1:c.3684C>T	XP_016858606.1:p.Val1228=
XR_002958896.1:n.3804C>T
NM_133259.4:c.3762C>T MANE Select	NP_573566.2:p.Val1254=