Canonical Allele Identifier: CA346676598

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899290-T-A
• MyVariant Identifiers: chr2:g.44126429T>A (hg19) ; chr2:g.43899290T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899290T>A , CM000664.2:g.43899290T>A	GRCh38
NC_000002.11:g.44126429T>A , CM000664.1:g.44126429T>A	GRCh37
NC_000002.10:g.43979933T>A	NCBI36
NG_008247.1:g.101716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.185A>T
ENST00000472420.6:n.833A>T
ENST00000483489.2:n.185A>T
ENST00000681993.1:n.1306A>T
ENST00000682303.1:c.*3540A>T	ENSP00000508325.1:n.*3540A>T
ENST00000682308.1:c.3754A>T	ENSP00000507056.1:p.Lys1252Ter
ENST00000682434.1:n.1305A>T
ENST00000682480.1:c.3772A>T	ENSP00000508344.1:p.Lys1258Ter
ENST00000682546.1:c.3751A>T	ENSP00000508188.1:p.Lys1251Ter
ENST00000682585.1:c.3754A>T	ENSP00000506885.1:p.Lys1252Ter
ENST00000682595.1:n.4338A>T
ENST00000682607.1:c.2172A>T
ENST00000682612.1:c.606A>T
ENST00000682779.1:c.3745A>T	ENSP00000507947.1:p.Lys1249Ter
ENST00000682845.1:n.2856A>T
ENST00000682885.1:c.3709A>T	ENSP00000508036.1:p.Lys1237Ter
ENST00000682933.1:n.3828A>T
ENST00000683002.1:c.606A>T
ENST00000683072.1:n.4338A>T
ENST00000683080.1:n.1373A>T
ENST00000683125.1:c.3862A>T	ENSP00000507939.1:p.Lys1288Ter
ENST00000683213.1:c.3757A>T	ENSP00000507751.1:p.Lys1253Ter
ENST00000683220.1:c.3784A>T	ENSP00000507151.1:p.Lys1262Ter
ENST00000683329.1:n.4557A>T
ENST00000683346.1:c.*3629A>T	ENSP00000507458.1:n.*3629A>T
ENST00000683409.1:n.2361A>T
ENST00000683459.1:n.4341A>T
ENST00000683528.1:c.682A>T
ENST00000683590.1:c.3502A>T	ENSP00000506820.1:p.Lys1168Ter
ENST00000683623.1:c.3661A>T	ENSP00000507702.1:p.Lys1221Ter
ENST00000683645.1:n.4305A>T
ENST00000683796.1:c.*3626A>T	ENSP00000508221.1:n.*3626A>T
ENST00000683802.1:n.6679A>T
ENST00000683833.1:c.3745A>T	ENSP00000506852.1:p.Lys1249Ter
ENST00000683994.1:c.3754A>T	ENSP00000507181.1:p.Lys1252Ter
ENST00000684290.1:c.*1290A>T	ENSP00000507243.1:n.*1290A>T
ENST00000684306.1:c.*3667A>T	ENSP00000508384.1:n.*3667A>T
ENST00000684341.1:n.3774A>T
ENST00000684383.1:c.*3392A>T	ENSP00000506863.1:n.*3392A>T
ENST00000684418.1:n.4935A>T
ENST00000684433.1:n.138A>T
ENST00000684454.1:n.3104A>T
ENST00000684619.1:c.*3626A>T	ENSP00000508088.1:n.*3626A>T
ENST00000684743.1:n.6499A>T
ENST00000260665.12:c.3754A>T MANE Select	ENSP00000260665.7:p.Lys1252Ter
ENST00000260665.11:c.3754A>T	ENSP00000260665.7:p.Lys1252Ter
ENST00000463456.5:n.2797A>T
ENST00000472420.5:n.151A>T
ENST00000483489.1:n.228A>T
NM_133259.3:c.3754A>T	NP_573566.2:p.Lys1252Ter
XM_006711915.2:c.3676A>T	XP_006711978.1:p.Lys1226Ter
XM_011532473.1:c.3754A>T	XP_011530775.1:p.Lys1252Ter
XM_011532474.1:c.3754A>T	XP_011530776.1:p.Lys1252Ter
XM_017003117.1:c.3676A>T	XP_016858606.1:p.Lys1226Ter
XR_002958896.1:n.3796A>T
NM_133259.4:c.3754A>T MANE Select	NP_573566.2:p.Lys1252Ter