Canonical Allele Identifier: CA346667886

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145171T>A (hg19) ; chr2:g.43918032T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918032T>A , CM000664.2:g.43918032T>A	GRCh38
NC_000002.11:g.44145171T>A , CM000664.1:g.44145171T>A	GRCh37
NC_000002.10:g.43998675T>A	NCBI36
NG_008247.1:g.82974A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.693A>T
ENST00000682295.1:c.303+224A>T	ENSP00000507499.1:n.303+224A>T
ENST00000682303.1:c.*2927A>T	ENSP00000508325.1:n.*2927A>T
ENST00000682308.1:c.3141A>T	ENSP00000507056.1:p.Gln1047His
ENST00000682480.1:c.3159A>T	ENSP00000508344.1:p.Gln1053His
ENST00000682546.1:c.3138A>T	ENSP00000508188.1:p.Gln1046His
ENST00000682585.1:c.3141A>T	ENSP00000506885.1:p.Gln1047His
ENST00000682595.1:n.3725A>T
ENST00000682607.1:c.1559A>T
ENST00000682779.1:c.3132A>T	ENSP00000507947.1:p.Gln1044His
ENST00000682845.1:n.2243A>T
ENST00000682885.1:c.3096A>T	ENSP00000508036.1:p.Gln1032His
ENST00000682933.1:n.3215A>T
ENST00000683072.1:n.3725A>T
ENST00000683080.1:n.760A>T
ENST00000683125.1:c.3249A>T	ENSP00000507939.1:p.Gln1083His
ENST00000683213.1:c.3144A>T	ENSP00000507751.1:p.Gln1048His
ENST00000683220.1:c.3171A>T	ENSP00000507151.1:p.Gln1057His
ENST00000683329.1:n.3944A>T
ENST00000683346.1:c.*3016A>T	ENSP00000507458.1:n.*3016A>T
ENST00000683409.1:n.1748A>T
ENST00000683459.1:n.3728A>T
ENST00000683590.1:c.2897-5474A>T	ENSP00000506820.1:n.2897-5474A>T
ENST00000683623.1:c.3048A>T	ENSP00000507702.1:p.Gln1016His
ENST00000683645.1:n.3692A>T
ENST00000683796.1:c.*3013A>T	ENSP00000508221.1:n.*3013A>T
ENST00000683802.1:n.6066A>T
ENST00000683833.1:c.3132A>T	ENSP00000506852.1:p.Gln1044His
ENST00000683994.1:c.3141A>T	ENSP00000507181.1:p.Gln1047His
ENST00000684290.1:c.*677A>T	ENSP00000507243.1:n.*677A>T
ENST00000684306.1:c.*3054A>T	ENSP00000508384.1:n.*3054A>T
ENST00000684341.1:n.3161A>T
ENST00000684383.1:c.*2779A>T	ENSP00000506863.1:n.*2779A>T
ENST00000684619.1:c.*3013A>T	ENSP00000508088.1:n.*3013A>T
ENST00000684705.1:n.262A>T
ENST00000684743.1:n.4172A>T
ENST00000260665.12:c.3141A>T MANE Select	ENSP00000260665.7:p.Gln1047His
ENST00000260665.11:c.3141A>T	ENSP00000260665.7:p.Gln1047His
NM_133259.3:c.3141A>T	NP_573566.2:p.Gln1047His
XM_006711915.2:c.3063A>T	XP_006711978.1:p.Gln1021His
XM_006711916.2:c.3141A>T	XP_006711979.1:p.Gln1047His
XM_011532473.1:c.3141A>T	XP_011530775.1:p.Gln1047His
XM_011532474.1:c.3141A>T	XP_011530776.1:p.Gln1047His
XM_006711916.3:c.3141A>T	XP_006711979.1:p.Gln1047His
XM_017003117.1:c.3063A>T	XP_016858606.1:p.Gln1021His
XR_002958896.1:n.3183A>T
NM_133259.4:c.3141A>T MANE Select	NP_573566.2:p.Gln1047His