Canonical Allele Identifier: CA346668363

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145270C>A (hg19) ; chr2:g.43918131C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918131C>A , CM000664.2:g.43918131C>A	GRCh38
NC_000002.11:g.44145270C>A , CM000664.1:g.44145270C>A	GRCh37
NC_000002.10:g.43998774C>A	NCBI36
NG_008247.1:g.82875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.594G>T
ENST00000682295.1:c.303+125G>T	ENSP00000507499.1:n.303+125G>T
ENST00000682303.1:c.*2828G>T	ENSP00000508325.1:n.*2828G>T
ENST00000682308.1:c.3042G>T	ENSP00000507056.1:p.Leu1014Phe
ENST00000682480.1:c.3060G>T	ENSP00000508344.1:p.Leu1020Phe
ENST00000682546.1:c.3039G>T	ENSP00000508188.1:p.Leu1013Phe
ENST00000682585.1:c.3042G>T	ENSP00000506885.1:p.Leu1014Phe
ENST00000682595.1:n.3626G>T
ENST00000682607.1:c.1460G>T
ENST00000682779.1:c.3033G>T	ENSP00000507947.1:p.Leu1011Phe
ENST00000682845.1:n.2144G>T
ENST00000682885.1:c.2997G>T	ENSP00000508036.1:p.Leu999Phe
ENST00000682933.1:n.3116G>T
ENST00000683072.1:n.3626G>T
ENST00000683080.1:n.661G>T
ENST00000683125.1:c.3150G>T	ENSP00000507939.1:p.Leu1050Phe
ENST00000683213.1:c.3045G>T	ENSP00000507751.1:p.Leu1015Phe
ENST00000683220.1:c.3072G>T	ENSP00000507151.1:p.Leu1024Phe
ENST00000683329.1:n.3845G>T
ENST00000683346.1:c.*2917G>T	ENSP00000507458.1:n.*2917G>T
ENST00000683409.1:n.1649G>T
ENST00000683459.1:n.3629G>T
ENST00000683590.1:c.2897-5573G>T	ENSP00000506820.1:n.2897-5573G>T
ENST00000683623.1:c.2949G>T	ENSP00000507702.1:p.Leu983Phe
ENST00000683645.1:n.3593G>T
ENST00000683796.1:c.*2914G>T	ENSP00000508221.1:n.*2914G>T
ENST00000683802.1:n.5967G>T
ENST00000683833.1:c.3033G>T	ENSP00000506852.1:p.Leu1011Phe
ENST00000683994.1:c.3042G>T	ENSP00000507181.1:p.Leu1014Phe
ENST00000684290.1:c.*578G>T	ENSP00000507243.1:n.*578G>T
ENST00000684306.1:c.*2955G>T	ENSP00000508384.1:n.*2955G>T
ENST00000684341.1:n.3062G>T
ENST00000684383.1:c.*2680G>T	ENSP00000506863.1:n.*2680G>T
ENST00000684619.1:c.*2914G>T	ENSP00000508088.1:n.*2914G>T
ENST00000684705.1:n.163G>T
ENST00000684743.1:n.4073G>T
ENST00000260665.12:c.3042G>T MANE Select	ENSP00000260665.7:p.Leu1014Phe
ENST00000260665.11:c.3042G>T	ENSP00000260665.7:p.Leu1014Phe
NM_133259.3:c.3042G>T	NP_573566.2:p.Leu1014Phe
XM_006711915.2:c.2964G>T	XP_006711978.1:p.Leu988Phe
XM_006711916.2:c.3042G>T	XP_006711979.1:p.Leu1014Phe
XM_011532473.1:c.3042G>T	XP_011530775.1:p.Leu1014Phe
XM_011532474.1:c.3042G>T	XP_011530776.1:p.Leu1014Phe
XM_006711916.3:c.3042G>T	XP_006711979.1:p.Leu1014Phe
XM_017003117.1:c.2964G>T	XP_016858606.1:p.Leu988Phe
XR_002958896.1:n.3084G>T
NM_133259.4:c.3042G>T MANE Select	NP_573566.2:p.Leu1014Phe