Canonical Allele Identifier: CA346676661

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126442C>G (hg19) ; chr2:g.43899303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899303C>G , CM000664.2:g.43899303C>G	GRCh38
NC_000002.11:g.44126442C>G , CM000664.1:g.44126442C>G	GRCh37
NC_000002.10:g.43979946C>G	NCBI36
NG_008247.1:g.101703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.172G>C
ENST00000472420.6:n.820G>C
ENST00000483489.2:n.172G>C
ENST00000681993.1:n.1293G>C
ENST00000682303.1:c.*3527G>C	ENSP00000508325.1:n.*3527G>C
ENST00000682308.1:c.3741G>C	ENSP00000507056.1:p.Gln1247His
ENST00000682434.1:n.1292G>C
ENST00000682480.1:c.3759G>C	ENSP00000508344.1:p.Gln1253His
ENST00000682546.1:c.3738G>C	ENSP00000508188.1:p.Gln1246His
ENST00000682585.1:c.3741G>C	ENSP00000506885.1:p.Gln1247His
ENST00000682595.1:n.4325G>C
ENST00000682607.1:c.2159G>C
ENST00000682612.1:c.593G>C
ENST00000682779.1:c.3732G>C	ENSP00000507947.1:p.Gln1244His
ENST00000682845.1:n.2843G>C
ENST00000682885.1:c.3696G>C	ENSP00000508036.1:p.Gln1232His
ENST00000682933.1:n.3815G>C
ENST00000683002.1:c.593G>C
ENST00000683072.1:n.4325G>C
ENST00000683080.1:n.1360G>C
ENST00000683125.1:c.3849G>C	ENSP00000507939.1:p.Gln1283His
ENST00000683213.1:c.3744G>C	ENSP00000507751.1:p.Gln1248His
ENST00000683220.1:c.3771G>C	ENSP00000507151.1:p.Gln1257His
ENST00000683329.1:n.4544G>C
ENST00000683346.1:c.*3616G>C	ENSP00000507458.1:n.*3616G>C
ENST00000683409.1:n.2348G>C
ENST00000683459.1:n.4328G>C
ENST00000683528.1:c.669G>C
ENST00000683590.1:c.3489G>C	ENSP00000506820.1:p.Gln1163His
ENST00000683623.1:c.3648G>C	ENSP00000507702.1:p.Gln1216His
ENST00000683645.1:n.4292G>C
ENST00000683796.1:c.*3613G>C	ENSP00000508221.1:n.*3613G>C
ENST00000683802.1:n.6666G>C
ENST00000683833.1:c.3732G>C	ENSP00000506852.1:p.Gln1244His
ENST00000683994.1:c.3741G>C	ENSP00000507181.1:p.Gln1247His
ENST00000684290.1:c.*1277G>C	ENSP00000507243.1:n.*1277G>C
ENST00000684306.1:c.*3654G>C	ENSP00000508384.1:n.*3654G>C
ENST00000684341.1:n.3761G>C
ENST00000684383.1:c.*3379G>C	ENSP00000506863.1:n.*3379G>C
ENST00000684418.1:n.4922G>C
ENST00000684433.1:n.125G>C
ENST00000684454.1:n.3091G>C
ENST00000684619.1:c.*3613G>C	ENSP00000508088.1:n.*3613G>C
ENST00000684743.1:n.6486G>C
ENST00000260665.12:c.3741G>C MANE Select	ENSP00000260665.7:p.Gln1247His
ENST00000260665.11:c.3741G>C	ENSP00000260665.7:p.Gln1247His
ENST00000463456.5:n.2784G>C
ENST00000472420.5:n.138G>C
ENST00000483489.1:n.215G>C
NM_133259.3:c.3741G>C	NP_573566.2:p.Gln1247His
XM_006711915.2:c.3663G>C	XP_006711978.1:p.Gln1221His
XM_011532473.1:c.3741G>C	XP_011530775.1:p.Gln1247His
XM_011532474.1:c.3741G>C	XP_011530776.1:p.Gln1247His
XM_017003117.1:c.3663G>C	XP_016858606.1:p.Gln1221His
XR_002958896.1:n.3783G>C
NM_133259.4:c.3741G>C MANE Select	NP_573566.2:p.Gln1247His