Canonical Allele Identifier: CA346676718

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126455C>A (hg19) ; chr2:g.43899316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899316C>A , CM000664.2:g.43899316C>A	GRCh38
NC_000002.11:g.44126455C>A , CM000664.1:g.44126455C>A	GRCh37
NC_000002.10:g.43979959C>A	NCBI36
NG_008247.1:g.101690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.159G>T
ENST00000472420.6:n.807G>T
ENST00000483489.2:n.159G>T
ENST00000681993.1:n.1280G>T
ENST00000682303.1:c.*3514G>T	ENSP00000508325.1:n.*3514G>T
ENST00000682308.1:c.3728G>T	ENSP00000507056.1:p.Arg1243Ile
ENST00000682434.1:n.1279G>T
ENST00000682480.1:c.3746G>T	ENSP00000508344.1:p.Arg1249Ile
ENST00000682546.1:c.3725G>T	ENSP00000508188.1:p.Arg1242Ile
ENST00000682585.1:c.3728G>T	ENSP00000506885.1:p.Arg1243Ile
ENST00000682595.1:n.4312G>T
ENST00000682607.1:c.2146G>T
ENST00000682612.1:c.580G>T
ENST00000682779.1:c.3719G>T	ENSP00000507947.1:p.Arg1240Ile
ENST00000682845.1:n.2830G>T
ENST00000682885.1:c.3683G>T	ENSP00000508036.1:p.Arg1228Ile
ENST00000682933.1:n.3802G>T
ENST00000683002.1:c.580G>T
ENST00000683072.1:n.4312G>T
ENST00000683080.1:n.1347G>T
ENST00000683125.1:c.3836G>T	ENSP00000507939.1:p.Arg1279Ile
ENST00000683213.1:c.3731G>T	ENSP00000507751.1:p.Arg1244Ile
ENST00000683220.1:c.3758G>T	ENSP00000507151.1:p.Arg1253Ile
ENST00000683329.1:n.4531G>T
ENST00000683346.1:c.*3603G>T	ENSP00000507458.1:n.*3603G>T
ENST00000683409.1:n.2335G>T
ENST00000683459.1:n.4315G>T
ENST00000683528.1:c.656G>T
ENST00000683590.1:c.3476G>T	ENSP00000506820.1:p.Arg1159Ile
ENST00000683623.1:c.3635G>T	ENSP00000507702.1:p.Arg1212Ile
ENST00000683645.1:n.4279G>T
ENST00000683796.1:c.*3600G>T	ENSP00000508221.1:n.*3600G>T
ENST00000683802.1:n.6653G>T
ENST00000683833.1:c.3719G>T	ENSP00000506852.1:p.Arg1240Ile
ENST00000683994.1:c.3728G>T	ENSP00000507181.1:p.Arg1243Ile
ENST00000684290.1:c.*1264G>T	ENSP00000507243.1:n.*1264G>T
ENST00000684306.1:c.*3641G>T	ENSP00000508384.1:n.*3641G>T
ENST00000684341.1:n.3748G>T
ENST00000684383.1:c.*3366G>T	ENSP00000506863.1:n.*3366G>T
ENST00000684418.1:n.4909G>T
ENST00000684433.1:n.112G>T
ENST00000684454.1:n.3078G>T
ENST00000684619.1:c.*3600G>T	ENSP00000508088.1:n.*3600G>T
ENST00000684743.1:n.6473G>T
ENST00000260665.12:c.3728G>T MANE Select	ENSP00000260665.7:p.Arg1243Ile
ENST00000260665.11:c.3728G>T	ENSP00000260665.7:p.Arg1243Ile
ENST00000463456.5:n.2771G>T
ENST00000472420.5:n.125G>T
ENST00000483489.1:n.202G>T
NM_133259.3:c.3728G>T	NP_573566.2:p.Arg1243Ile
XM_006711915.2:c.3650G>T	XP_006711978.1:p.Arg1217Ile
XM_011532473.1:c.3728G>T	XP_011530775.1:p.Arg1243Ile
XM_011532474.1:c.3728G>T	XP_011530776.1:p.Arg1243Ile
XM_017003117.1:c.3650G>T	XP_016858606.1:p.Arg1217Ile
XR_002958896.1:n.3770G>T
NM_133259.4:c.3728G>T MANE Select	NP_573566.2:p.Arg1243Ile