Canonical Allele Identifier: CA346664927

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132854T>A (hg19) ; chr2:g.43905715T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905715T>A , CM000664.2:g.43905715T>A	GRCh38
NC_000002.11:g.44132854T>A , CM000664.1:g.44132854T>A	GRCh37
NC_000002.10:g.43986358T>A	NCBI36
NG_008247.1:g.95291A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.420A>T
ENST00000681993.1:n.893A>T
ENST00000682295.1:c.496A>T	ENSP00000507499.1:n.496A>T
ENST00000682303.1:c.*3127A>T	ENSP00000508325.1:n.*3127A>T
ENST00000682308.1:c.3341A>T	ENSP00000507056.1:p.Gln1114Leu
ENST00000682480.1:c.3359A>T	ENSP00000508344.1:p.Gln1120Leu
ENST00000682546.1:c.3338A>T	ENSP00000508188.1:p.Gln1113Leu
ENST00000682585.1:c.3341A>T	ENSP00000506885.1:p.Gln1114Leu
ENST00000682595.1:n.3925A>T
ENST00000682607.1:c.1759A>T
ENST00000682612.1:c.193A>T
ENST00000682779.1:c.3332A>T	ENSP00000507947.1:p.Gln1111Leu
ENST00000682845.1:n.2443A>T
ENST00000682885.1:c.3296A>T	ENSP00000508036.1:p.Gln1099Leu
ENST00000682933.1:n.3415A>T
ENST00000683002.1:c.193A>T
ENST00000683072.1:n.3925A>T
ENST00000683080.1:n.960A>T
ENST00000683125.1:c.3449A>T	ENSP00000507939.1:p.Gln1150Leu
ENST00000683213.1:c.3344A>T	ENSP00000507751.1:p.Gln1115Leu
ENST00000683220.1:c.3371A>T	ENSP00000507151.1:p.Gln1124Leu
ENST00000683329.1:n.4144A>T
ENST00000683346.1:c.*3216A>T	ENSP00000507458.1:n.*3216A>T
ENST00000683409.1:n.1948A>T
ENST00000683459.1:n.3928A>T
ENST00000683528.1:c.193A>T
ENST00000683590.1:c.3089A>T	ENSP00000506820.1:p.Gln1030Leu
ENST00000683623.1:c.3248A>T	ENSP00000507702.1:p.Gln1083Leu
ENST00000683645.1:n.3892A>T
ENST00000683796.1:c.*3213A>T	ENSP00000508221.1:n.*3213A>T
ENST00000683802.1:n.6266A>T
ENST00000683833.1:c.3332A>T	ENSP00000506852.1:p.Gln1111Leu
ENST00000683994.1:c.3341A>T	ENSP00000507181.1:p.Gln1114Leu
ENST00000684290.1:c.*877A>T	ENSP00000507243.1:n.*877A>T
ENST00000684306.1:c.*3254A>T	ENSP00000508384.1:n.*3254A>T
ENST00000684341.1:n.3361A>T
ENST00000684383.1:c.*2979A>T	ENSP00000506863.1:n.*2979A>T
ENST00000684418.1:n.4522A>T
ENST00000684454.1:n.2691A>T
ENST00000684619.1:c.*3213A>T	ENSP00000508088.1:n.*3213A>T
ENST00000684743.1:n.4372A>T
ENST00000260665.12:c.3341A>T MANE Select	ENSP00000260665.7:p.Gln1114Leu
ENST00000260665.11:c.3341A>T	ENSP00000260665.7:p.Gln1114Leu
NM_133259.3:c.3341A>T	NP_573566.2:p.Gln1114Leu
XM_006711915.2:c.3263A>T	XP_006711978.1:p.Gln1088Leu
XM_011532473.1:c.3341A>T	XP_011530775.1:p.Gln1114Leu
XM_011532474.1:c.3341A>T	XP_011530776.1:p.Gln1114Leu
XM_017003117.1:c.3263A>T	XP_016858606.1:p.Gln1088Leu
XR_002958896.1:n.3383A>T
NM_133259.4:c.3341A>T MANE Select	NP_573566.2:p.Gln1114Leu