Canonical Allele Identifier: CA346676750

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1287683213
• gnomAD v2: 2-44126464-A-G
• MyVariant Identifiers: chr2:g.44126464A>G (hg19) ; chr2:g.43899325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899325A>G , CM000664.2:g.43899325A>G	GRCh38
NC_000002.11:g.44126464A>G , CM000664.1:g.44126464A>G	GRCh37
NC_000002.10:g.43979968A>G	NCBI36
NG_008247.1:g.101681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.150T>C
ENST00000472420.6:n.798T>C
ENST00000483489.2:n.150T>C
ENST00000681993.1:n.1271T>C
ENST00000682303.1:c.*3505T>C	ENSP00000508325.1:n.*3505T>C
ENST00000682308.1:c.3719T>C	ENSP00000507056.1:p.Met1240Thr
ENST00000682434.1:n.1270T>C
ENST00000682480.1:c.3737T>C	ENSP00000508344.1:p.Met1246Thr
ENST00000682546.1:c.3716T>C	ENSP00000508188.1:p.Met1239Thr
ENST00000682585.1:c.3719T>C	ENSP00000506885.1:p.Met1240Thr
ENST00000682595.1:n.4303T>C
ENST00000682607.1:c.2137T>C
ENST00000682612.1:c.571T>C
ENST00000682779.1:c.3710T>C	ENSP00000507947.1:p.Met1237Thr
ENST00000682845.1:n.2821T>C
ENST00000682885.1:c.3674T>C	ENSP00000508036.1:p.Met1225Thr
ENST00000682933.1:n.3793T>C
ENST00000683002.1:c.571T>C
ENST00000683072.1:n.4303T>C
ENST00000683080.1:n.1338T>C
ENST00000683125.1:c.3827T>C	ENSP00000507939.1:p.Met1276Thr
ENST00000683213.1:c.3722T>C	ENSP00000507751.1:p.Met1241Thr
ENST00000683220.1:c.3749T>C	ENSP00000507151.1:p.Met1250Thr
ENST00000683329.1:n.4522T>C
ENST00000683346.1:c.*3594T>C	ENSP00000507458.1:n.*3594T>C
ENST00000683409.1:n.2326T>C
ENST00000683459.1:n.4306T>C
ENST00000683528.1:c.647T>C
ENST00000683590.1:c.3467T>C	ENSP00000506820.1:p.Met1156Thr
ENST00000683623.1:c.3626T>C	ENSP00000507702.1:p.Met1209Thr
ENST00000683645.1:n.4270T>C
ENST00000683796.1:c.*3591T>C	ENSP00000508221.1:n.*3591T>C
ENST00000683802.1:n.6644T>C
ENST00000683833.1:c.3710T>C	ENSP00000506852.1:p.Met1237Thr
ENST00000683994.1:c.3719T>C	ENSP00000507181.1:p.Met1240Thr
ENST00000684290.1:c.*1255T>C	ENSP00000507243.1:n.*1255T>C
ENST00000684306.1:c.*3632T>C	ENSP00000508384.1:n.*3632T>C
ENST00000684341.1:n.3739T>C
ENST00000684383.1:c.*3357T>C	ENSP00000506863.1:n.*3357T>C
ENST00000684418.1:n.4900T>C
ENST00000684433.1:n.103T>C
ENST00000684454.1:n.3069T>C
ENST00000684619.1:c.*3591T>C	ENSP00000508088.1:n.*3591T>C
ENST00000684743.1:n.6464T>C
ENST00000260665.12:c.3719T>C MANE Select	ENSP00000260665.7:p.Met1240Thr
ENST00000260665.11:c.3719T>C	ENSP00000260665.7:p.Met1240Thr
ENST00000463456.5:n.2762T>C
ENST00000472420.5:n.116T>C
ENST00000483489.1:n.193T>C
NM_133259.3:c.3719T>C	NP_573566.2:p.Met1240Thr
XM_006711915.2:c.3641T>C	XP_006711978.1:p.Met1214Thr
XM_011532473.1:c.3719T>C	XP_011530775.1:p.Met1240Thr
XM_011532474.1:c.3719T>C	XP_011530776.1:p.Met1240Thr
XM_017003117.1:c.3641T>C	XP_016858606.1:p.Met1214Thr
XR_002958896.1:n.3761T>C
NM_133259.4:c.3719T>C MANE Select	NP_573566.2:p.Met1240Thr