Canonical Allele Identifier: CA346676761

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126468T>G (hg19) ; chr2:g.43899329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899329T>G , CM000664.2:g.43899329T>G	GRCh38
NC_000002.11:g.44126468T>G , CM000664.1:g.44126468T>G	GRCh37
NC_000002.10:g.43979972T>G	NCBI36
NG_008247.1:g.101677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.146A>C
ENST00000472420.6:n.794A>C
ENST00000483489.2:n.146A>C
ENST00000681993.1:n.1267A>C
ENST00000682303.1:c.*3501A>C	ENSP00000508325.1:n.*3501A>C
ENST00000682308.1:c.3715A>C	ENSP00000507056.1:p.Ile1239Leu
ENST00000682434.1:n.1266A>C
ENST00000682480.1:c.3733A>C	ENSP00000508344.1:p.Ile1245Leu
ENST00000682546.1:c.3712A>C	ENSP00000508188.1:p.Ile1238Leu
ENST00000682585.1:c.3715A>C	ENSP00000506885.1:p.Ile1239Leu
ENST00000682595.1:n.4299A>C
ENST00000682607.1:c.2133A>C
ENST00000682612.1:c.567A>C
ENST00000682779.1:c.3706A>C	ENSP00000507947.1:p.Ile1236Leu
ENST00000682845.1:n.2817A>C
ENST00000682885.1:c.3670A>C	ENSP00000508036.1:p.Ile1224Leu
ENST00000682933.1:n.3789A>C
ENST00000683002.1:c.567A>C
ENST00000683072.1:n.4299A>C
ENST00000683080.1:n.1334A>C
ENST00000683125.1:c.3823A>C	ENSP00000507939.1:p.Ile1275Leu
ENST00000683213.1:c.3718A>C	ENSP00000507751.1:p.Ile1240Leu
ENST00000683220.1:c.3745A>C	ENSP00000507151.1:p.Ile1249Leu
ENST00000683329.1:n.4518A>C
ENST00000683346.1:c.*3590A>C	ENSP00000507458.1:n.*3590A>C
ENST00000683409.1:n.2322A>C
ENST00000683459.1:n.4302A>C
ENST00000683528.1:c.643A>C
ENST00000683590.1:c.3463A>C	ENSP00000506820.1:p.Ile1155Leu
ENST00000683623.1:c.3622A>C	ENSP00000507702.1:p.Ile1208Leu
ENST00000683645.1:n.4266A>C
ENST00000683796.1:c.*3587A>C	ENSP00000508221.1:n.*3587A>C
ENST00000683802.1:n.6640A>C
ENST00000683833.1:c.3706A>C	ENSP00000506852.1:p.Ile1236Leu
ENST00000683994.1:c.3715A>C	ENSP00000507181.1:p.Ile1239Leu
ENST00000684290.1:c.*1251A>C	ENSP00000507243.1:n.*1251A>C
ENST00000684306.1:c.*3628A>C	ENSP00000508384.1:n.*3628A>C
ENST00000684341.1:n.3735A>C
ENST00000684383.1:c.*3353A>C	ENSP00000506863.1:n.*3353A>C
ENST00000684418.1:n.4896A>C
ENST00000684433.1:n.99A>C
ENST00000684454.1:n.3065A>C
ENST00000684619.1:c.*3587A>C	ENSP00000508088.1:n.*3587A>C
ENST00000684743.1:n.6460A>C
ENST00000260665.12:c.3715A>C MANE Select	ENSP00000260665.7:p.Ile1239Leu
ENST00000260665.11:c.3715A>C	ENSP00000260665.7:p.Ile1239Leu
ENST00000463456.5:n.2758A>C
ENST00000472420.5:n.112A>C
ENST00000483489.1:n.189A>C
NM_133259.3:c.3715A>C	NP_573566.2:p.Ile1239Leu
XM_006711915.2:c.3637A>C	XP_006711978.1:p.Ile1213Leu
XM_011532473.1:c.3715A>C	XP_011530775.1:p.Ile1239Leu
XM_011532474.1:c.3715A>C	XP_011530776.1:p.Ile1239Leu
XM_017003117.1:c.3637A>C	XP_016858606.1:p.Ile1213Leu
XR_002958896.1:n.3757A>C
NM_133259.4:c.3715A>C MANE Select	NP_573566.2:p.Ile1239Leu