Canonical Allele Identifier: CA346676747

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126463C>G (hg19) ; chr2:g.43899324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899324C>G , CM000664.2:g.43899324C>G	GRCh38
NC_000002.11:g.44126463C>G , CM000664.1:g.44126463C>G	GRCh37
NC_000002.10:g.43979967C>G	NCBI36
NG_008247.1:g.101682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.151G>C
ENST00000472420.6:n.799G>C
ENST00000483489.2:n.151G>C
ENST00000681993.1:n.1272G>C
ENST00000682303.1:c.*3506G>C	ENSP00000508325.1:n.*3506G>C
ENST00000682308.1:c.3720G>C	ENSP00000507056.1:p.Met1240Ile
ENST00000682434.1:n.1271G>C
ENST00000682480.1:c.3738G>C	ENSP00000508344.1:p.Met1246Ile
ENST00000682546.1:c.3717G>C	ENSP00000508188.1:p.Met1239Ile
ENST00000682585.1:c.3720G>C	ENSP00000506885.1:p.Met1240Ile
ENST00000682595.1:n.4304G>C
ENST00000682607.1:c.2138G>C
ENST00000682612.1:c.572G>C
ENST00000682779.1:c.3711G>C	ENSP00000507947.1:p.Met1237Ile
ENST00000682845.1:n.2822G>C
ENST00000682885.1:c.3675G>C	ENSP00000508036.1:p.Met1225Ile
ENST00000682933.1:n.3794G>C
ENST00000683002.1:c.572G>C
ENST00000683072.1:n.4304G>C
ENST00000683080.1:n.1339G>C
ENST00000683125.1:c.3828G>C	ENSP00000507939.1:p.Met1276Ile
ENST00000683213.1:c.3723G>C	ENSP00000507751.1:p.Met1241Ile
ENST00000683220.1:c.3750G>C	ENSP00000507151.1:p.Met1250Ile
ENST00000683329.1:n.4523G>C
ENST00000683346.1:c.*3595G>C	ENSP00000507458.1:n.*3595G>C
ENST00000683409.1:n.2327G>C
ENST00000683459.1:n.4307G>C
ENST00000683528.1:c.648G>C
ENST00000683590.1:c.3468G>C	ENSP00000506820.1:p.Met1156Ile
ENST00000683623.1:c.3627G>C	ENSP00000507702.1:p.Met1209Ile
ENST00000683645.1:n.4271G>C
ENST00000683796.1:c.*3592G>C	ENSP00000508221.1:n.*3592G>C
ENST00000683802.1:n.6645G>C
ENST00000683833.1:c.3711G>C	ENSP00000506852.1:p.Met1237Ile
ENST00000683994.1:c.3720G>C	ENSP00000507181.1:p.Met1240Ile
ENST00000684290.1:c.*1256G>C	ENSP00000507243.1:n.*1256G>C
ENST00000684306.1:c.*3633G>C	ENSP00000508384.1:n.*3633G>C
ENST00000684341.1:n.3740G>C
ENST00000684383.1:c.*3358G>C	ENSP00000506863.1:n.*3358G>C
ENST00000684418.1:n.4901G>C
ENST00000684433.1:n.104G>C
ENST00000684454.1:n.3070G>C
ENST00000684619.1:c.*3592G>C	ENSP00000508088.1:n.*3592G>C
ENST00000684743.1:n.6465G>C
ENST00000260665.12:c.3720G>C MANE Select	ENSP00000260665.7:p.Met1240Ile
ENST00000260665.11:c.3720G>C	ENSP00000260665.7:p.Met1240Ile
ENST00000463456.5:n.2763G>C
ENST00000472420.5:n.117G>C
ENST00000483489.1:n.194G>C
NM_133259.3:c.3720G>C	NP_573566.2:p.Met1240Ile
XM_006711915.2:c.3642G>C	XP_006711978.1:p.Met1214Ile
XM_011532473.1:c.3720G>C	XP_011530775.1:p.Met1240Ile
XM_011532474.1:c.3720G>C	XP_011530776.1:p.Met1240Ile
XM_017003117.1:c.3642G>C	XP_016858606.1:p.Met1214Ile
XR_002958896.1:n.3762G>C
NM_133259.4:c.3720G>C MANE Select	NP_573566.2:p.Met1240Ile