Canonical Allele Identifier: CA346676720

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899316-C-G
• COSMIC: COSM3839573
• MyVariant Identifiers: chr2:g.44126455C>G (hg19) ; chr2:g.43899316C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.159G>C
ENST00000472420.6:n.807G>C
ENST00000483489.2:n.159G>C
ENST00000681993.1:n.1280G>C
ENST00000682303.1:c.*3514G>C	ENSP00000508325.1:n.*3514G>C
ENST00000682308.1:c.3728G>C	ENSP00000507056.1:p.Arg1243Thr
ENST00000682434.1:n.1279G>C
ENST00000682480.1:c.3746G>C	ENSP00000508344.1:p.Arg1249Thr
ENST00000682546.1:c.3725G>C	ENSP00000508188.1:p.Arg1242Thr
ENST00000682585.1:c.3728G>C	ENSP00000506885.1:p.Arg1243Thr
ENST00000682595.1:n.4312G>C
ENST00000682607.1:c.2146G>C
ENST00000682612.1:c.580G>C
ENST00000682779.1:c.3719G>C	ENSP00000507947.1:p.Arg1240Thr
ENST00000682845.1:n.2830G>C
ENST00000682885.1:c.3683G>C	ENSP00000508036.1:p.Arg1228Thr
ENST00000682933.1:n.3802G>C
ENST00000683002.1:c.580G>C
ENST00000683072.1:n.4312G>C
ENST00000683080.1:n.1347G>C
ENST00000683125.1:c.3836G>C	ENSP00000507939.1:p.Arg1279Thr
ENST00000683213.1:c.3731G>C	ENSP00000507751.1:p.Arg1244Thr
ENST00000683220.1:c.3758G>C	ENSP00000507151.1:p.Arg1253Thr
ENST00000683329.1:n.4531G>C
ENST00000683346.1:c.*3603G>C	ENSP00000507458.1:n.*3603G>C
ENST00000683409.1:n.2335G>C
ENST00000683459.1:n.4315G>C
ENST00000683528.1:c.656G>C
ENST00000683590.1:c.3476G>C	ENSP00000506820.1:p.Arg1159Thr
ENST00000683623.1:c.3635G>C	ENSP00000507702.1:p.Arg1212Thr
ENST00000683645.1:n.4279G>C
ENST00000683796.1:c.*3600G>C	ENSP00000508221.1:n.*3600G>C
ENST00000683802.1:n.6653G>C
ENST00000683833.1:c.3719G>C	ENSP00000506852.1:p.Arg1240Thr
ENST00000683994.1:c.3728G>C	ENSP00000507181.1:p.Arg1243Thr
ENST00000684290.1:c.*1264G>C	ENSP00000507243.1:n.*1264G>C
ENST00000684306.1:c.*3641G>C	ENSP00000508384.1:n.*3641G>C
ENST00000684341.1:n.3748G>C
ENST00000684383.1:c.*3366G>C	ENSP00000506863.1:n.*3366G>C
ENST00000684418.1:n.4909G>C
ENST00000684433.1:n.112G>C
ENST00000684454.1:n.3078G>C
ENST00000684619.1:c.*3600G>C	ENSP00000508088.1:n.*3600G>C
ENST00000684743.1:n.6473G>C
ENST00000260665.12:c.3728G>C MANE Select	ENSP00000260665.7:p.Arg1243Thr
ENST00000260665.11:c.3728G>C	ENSP00000260665.7:p.Arg1243Thr
ENST00000463456.5:n.2771G>C
ENST00000472420.5:n.125G>C
ENST00000483489.1:n.202G>C
NM_133259.3:c.3728G>C	NP_573566.2:p.Arg1243Thr
XM_006711915.2:c.3650G>C	XP_006711978.1:p.Arg1217Thr
XM_011532473.1:c.3728G>C	XP_011530775.1:p.Arg1243Thr
XM_011532474.1:c.3728G>C	XP_011530776.1:p.Arg1243Thr
XM_017003117.1:c.3650G>C	XP_016858606.1:p.Arg1217Thr
XR_002958896.1:n.3770G>C
NM_133259.4:c.3728G>C MANE Select	NP_573566.2:p.Arg1243Thr