Canonical Allele Identifier: CA346674698

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894548-A-G
• MyVariant Identifiers: chr2:g.44121687A>G (hg19) ; chr2:g.43894548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894548A>G , CM000664.2:g.43894548A>G	GRCh38
NC_000002.11:g.44121687A>G , CM000664.1:g.44121687A>G	GRCh37
NC_000002.10:g.43975191A>G	NCBI36
NG_008247.1:g.106458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.612T>C
ENST00000681993.1:n.1534T>C
ENST00000682154.1:n.1416T>C
ENST00000682303.1:c.*3693T>C	ENSP00000508325.1:n.*3693T>C
ENST00000682308.1:c.3907T>C	ENSP00000507056.1:p.Tyr1303His
ENST00000682434.1:n.3537T>C
ENST00000682480.1:c.4000T>C	ENSP00000508344.1:p.Tyr1334His
ENST00000682546.1:c.3979T>C	ENSP00000508188.1:p.Tyr1327His
ENST00000682585.1:c.*110T>C	ENSP00000506885.1:n.*110T>C
ENST00000682607.1:c.2725T>C
ENST00000682612.1:c.752+2086T>C
ENST00000682696.1:c.82T>C	ENSP00000508411.1:p.Tyr28His
ENST00000682779.1:c.3973T>C	ENSP00000507947.1:p.Tyr1325His
ENST00000682885.1:c.3937T>C	ENSP00000508036.1:p.Tyr1313His
ENST00000682933.1:n.4182T>C
ENST00000683002.1:c.834T>C
ENST00000683072.1:n.4566T>C
ENST00000683080.1:n.1601T>C
ENST00000683096.1:n.2423T>C
ENST00000683125.1:c.4090T>C	ENSP00000507939.1:p.Tyr1364His
ENST00000683213.1:c.3985T>C	ENSP00000507751.1:p.Tyr1329His
ENST00000683220.1:c.4012T>C	ENSP00000507151.1:p.Tyr1338His
ENST00000683329.1:n.4785T>C
ENST00000683346.1:c.*3857T>C	ENSP00000507458.1:n.*3857T>C
ENST00000683409.1:n.2514T>C
ENST00000683459.1:n.4569T>C
ENST00000683590.1:c.3655T>C	ENSP00000506820.1:p.Tyr1219His
ENST00000683623.1:c.3889T>C	ENSP00000507702.1:p.Tyr1297His
ENST00000683796.1:c.*3779T>C	ENSP00000508221.1:n.*3779T>C
ENST00000683833.1:c.3898T>C	ENSP00000506852.1:p.Tyr1300His
ENST00000683994.1:c.*95T>C	ENSP00000507181.1:n.*95T>C
ENST00000684290.1:c.*1443T>C	ENSP00000507243.1:n.*1443T>C
ENST00000684306.1:c.*3895T>C	ENSP00000508384.1:n.*3895T>C
ENST00000684383.1:c.*3620T>C	ENSP00000506863.1:n.*3620T>C
ENST00000684418.1:n.5163T>C
ENST00000684433.1:n.366T>C
ENST00000684454.1:n.7846T>C
ENST00000684619.1:c.*3854T>C	ENSP00000508088.1:n.*3854T>C
ENST00000684743.1:n.6727T>C
ENST00000260665.12:c.3982T>C MANE Select	ENSP00000260665.7:p.Tyr1328His
ENST00000260665.11:c.3982T>C	ENSP00000260665.7:p.Tyr1328His
ENST00000419884.5:c.223T>C	ENSP00000414207.1:p.Tyr75His
ENST00000463456.5:n.3025T>C
NM_133259.3:c.3982T>C	NP_573566.2:p.Tyr1328His
XM_006711915.2:c.3904T>C	XP_006711978.1:p.Tyr1302His
XM_011532473.1:c.3907T>C	XP_011530775.1:p.Tyr1303His
XM_011532474.1:c.3982T>C	XP_011530776.1:p.Tyr1328His
XM_017003117.1:c.3829T>C	XP_016858606.1:p.Tyr1277His
XR_002958896.1:n.4024T>C
NM_133259.4:c.3982T>C MANE Select	NP_573566.2:p.Tyr1328His