Canonical Allele Identifier: CA1637954

Gene: LRPPRC

Linked Data

• dbSNP Id: rs768246531
• ExAC: 2:44126420 T / C
• gnomAD v2: 2-44126420-T-C
• gnomAD v4: 2-43899281-T-C
• MyVariant Identifiers: chr2:g.44126420T>C (hg19) ; chr2:g.43899281T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899281T>C , CM000664.2:g.43899281T>C	GRCh38
NC_000002.11:g.44126420T>C , CM000664.1:g.44126420T>C	GRCh37
NC_000002.10:g.43979924T>C	NCBI36
NG_008247.1:g.101725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.194A>G
ENST00000472420.6:n.842A>G
ENST00000483489.2:n.194A>G
ENST00000681993.1:n.1315A>G
ENST00000682303.1:c.*3549A>G	ENSP00000508325.1:n.*3549A>G
ENST00000682308.1:c.3763A>G	ENSP00000507056.1:p.Thr1255Ala
ENST00000682434.1:n.1314A>G
ENST00000682480.1:c.3781A>G	ENSP00000508344.1:p.Thr1261Ala
ENST00000682546.1:c.3760A>G	ENSP00000508188.1:p.Thr1254Ala
ENST00000682585.1:c.3763A>G	ENSP00000506885.1:p.Thr1255Ala
ENST00000682595.1:n.4347A>G
ENST00000682607.1:c.2181A>G
ENST00000682612.1:c.615A>G
ENST00000682779.1:c.3754A>G	ENSP00000507947.1:p.Thr1252Ala
ENST00000682845.1:n.2865A>G
ENST00000682885.1:c.3718A>G	ENSP00000508036.1:p.Thr1240Ala
ENST00000682933.1:n.3837A>G
ENST00000683002.1:c.615A>G
ENST00000683072.1:n.4347A>G
ENST00000683080.1:n.1382A>G
ENST00000683125.1:c.3871A>G	ENSP00000507939.1:p.Thr1291Ala
ENST00000683213.1:c.3766A>G	ENSP00000507751.1:p.Thr1256Ala
ENST00000683220.1:c.3793A>G	ENSP00000507151.1:p.Thr1265Ala
ENST00000683329.1:n.4566A>G
ENST00000683346.1:c.*3638A>G	ENSP00000507458.1:n.*3638A>G
ENST00000683409.1:n.2370A>G
ENST00000683459.1:n.4350A>G
ENST00000683528.1:c.691A>G
ENST00000683590.1:c.3511A>G	ENSP00000506820.1:p.Thr1171Ala
ENST00000683623.1:c.3670A>G	ENSP00000507702.1:p.Thr1224Ala
ENST00000683645.1:n.4314A>G
ENST00000683796.1:c.*3635A>G	ENSP00000508221.1:n.*3635A>G
ENST00000683802.1:n.6688A>G
ENST00000683833.1:c.3754A>G	ENSP00000506852.1:p.Thr1252Ala
ENST00000683994.1:c.3763A>G	ENSP00000507181.1:p.Thr1255Ala
ENST00000684290.1:c.*1299A>G	ENSP00000507243.1:n.*1299A>G
ENST00000684306.1:c.*3676A>G	ENSP00000508384.1:n.*3676A>G
ENST00000684341.1:n.3783A>G
ENST00000684383.1:c.*3401A>G	ENSP00000506863.1:n.*3401A>G
ENST00000684418.1:n.4944A>G
ENST00000684433.1:n.147A>G
ENST00000684454.1:n.3113A>G
ENST00000684619.1:c.*3635A>G	ENSP00000508088.1:n.*3635A>G
ENST00000684743.1:n.6508A>G
ENST00000260665.12:c.3763A>G MANE Select	ENSP00000260665.7:p.Thr1255Ala
ENST00000260665.11:c.3763A>G	ENSP00000260665.7:p.Thr1255Ala
ENST00000419884.5:c.4A>G	ENSP00000414207.1:p.Thr2Ala
ENST00000463456.5:n.2806A>G
ENST00000472420.5:n.160A>G
ENST00000483489.1:n.237A>G
NM_133259.3:c.3763A>G	NP_573566.2:p.Thr1255Ala
XM_006711915.2:c.3685A>G	XP_006711978.1:p.Thr1229Ala
XM_011532473.1:c.3763A>G	XP_011530775.1:p.Thr1255Ala
XM_011532474.1:c.3763A>G	XP_011530776.1:p.Thr1255Ala
XM_017003117.1:c.3685A>G	XP_016858606.1:p.Thr1229Ala
XR_002958896.1:n.3805A>G
NM_133259.4:c.3763A>G MANE Select	NP_573566.2:p.Thr1255Ala