Canonical Allele Identifier: CA346665123

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905778-G-T
• MyVariant Identifiers: chr2:g.44132917G>T (hg19) ; chr2:g.43905778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905778G>T , CM000664.2:g.43905778G>T	GRCh38
NC_000002.11:g.44132917G>T , CM000664.1:g.44132917G>T	GRCh37
NC_000002.10:g.43986421G>T	NCBI36
NG_008247.1:g.95228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.357C>A
ENST00000681993.1:n.830C>A
ENST00000682295.1:c.433C>A	ENSP00000507499.1:n.433C>A
ENST00000682303.1:c.*3064C>A	ENSP00000508325.1:n.*3064C>A
ENST00000682308.1:c.3278C>A	ENSP00000507056.1:p.Ala1093Glu
ENST00000682480.1:c.3296C>A	ENSP00000508344.1:p.Ala1099Glu
ENST00000682546.1:c.3275C>A	ENSP00000508188.1:p.Ala1092Glu
ENST00000682585.1:c.3278C>A	ENSP00000506885.1:p.Ala1093Glu
ENST00000682595.1:n.3862C>A
ENST00000682607.1:c.1696C>A
ENST00000682612.1:c.130C>A
ENST00000682779.1:c.3269C>A	ENSP00000507947.1:p.Ala1090Glu
ENST00000682845.1:n.2380C>A
ENST00000682885.1:c.3233C>A	ENSP00000508036.1:p.Ala1078Glu
ENST00000682933.1:n.3352C>A
ENST00000683002.1:c.130C>A
ENST00000683072.1:n.3862C>A
ENST00000683080.1:n.897C>A
ENST00000683125.1:c.3386C>A	ENSP00000507939.1:p.Ala1129Glu
ENST00000683213.1:c.3281C>A	ENSP00000507751.1:p.Ala1094Glu
ENST00000683220.1:c.3308C>A	ENSP00000507151.1:p.Ala1103Glu
ENST00000683329.1:n.4081C>A
ENST00000683346.1:c.*3153C>A	ENSP00000507458.1:n.*3153C>A
ENST00000683409.1:n.1885C>A
ENST00000683459.1:n.3865C>A
ENST00000683528.1:c.130C>A
ENST00000683590.1:c.3026C>A	ENSP00000506820.1:p.Ala1009Glu
ENST00000683623.1:c.3185C>A	ENSP00000507702.1:p.Ala1062Glu
ENST00000683645.1:n.3829C>A
ENST00000683796.1:c.*3150C>A	ENSP00000508221.1:n.*3150C>A
ENST00000683802.1:n.6203C>A
ENST00000683833.1:c.3269C>A	ENSP00000506852.1:p.Ala1090Glu
ENST00000683994.1:c.3278C>A	ENSP00000507181.1:p.Ala1093Glu
ENST00000684290.1:c.*814C>A	ENSP00000507243.1:n.*814C>A
ENST00000684306.1:c.*3191C>A	ENSP00000508384.1:n.*3191C>A
ENST00000684341.1:n.3298C>A
ENST00000684383.1:c.*2916C>A	ENSP00000506863.1:n.*2916C>A
ENST00000684418.1:n.4459C>A
ENST00000684454.1:n.2628C>A
ENST00000684619.1:c.*3150C>A	ENSP00000508088.1:n.*3150C>A
ENST00000684743.1:n.4309C>A
ENST00000260665.12:c.3278C>A MANE Select	ENSP00000260665.7:p.Ala1093Glu
ENST00000260665.11:c.3278C>A	ENSP00000260665.7:p.Ala1093Glu
NM_133259.3:c.3278C>A	NP_573566.2:p.Ala1093Glu
XM_006711915.2:c.3200C>A	XP_006711978.1:p.Ala1067Glu
XM_011532473.1:c.3278C>A	XP_011530775.1:p.Ala1093Glu
XM_011532474.1:c.3278C>A	XP_011530776.1:p.Ala1093Glu
XM_017003117.1:c.3200C>A	XP_016858606.1:p.Ala1067Glu
XR_002958896.1:n.3320C>A
NM_133259.4:c.3278C>A MANE Select	NP_573566.2:p.Ala1093Glu