Canonical Allele Identifier: CA346668050

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671541569
• MyVariant Identifiers: chr2:g.44145204C>G (hg19) ; chr2:g.43918065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918065C>G , CM000664.2:g.43918065C>G	GRCh38
NC_000002.11:g.44145204C>G , CM000664.1:g.44145204C>G	GRCh37
NC_000002.10:g.43998708C>G	NCBI36
NG_008247.1:g.82941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.660G>C
ENST00000682295.1:c.303+191G>C	ENSP00000507499.1:n.303+191G>C
ENST00000682303.1:c.*2894G>C	ENSP00000508325.1:n.*2894G>C
ENST00000682308.1:c.3108G>C	ENSP00000507056.1:p.Gln1036His
ENST00000682480.1:c.3126G>C	ENSP00000508344.1:p.Gln1042His
ENST00000682546.1:c.3105G>C	ENSP00000508188.1:p.Gln1035His
ENST00000682585.1:c.3108G>C	ENSP00000506885.1:p.Gln1036His
ENST00000682595.1:n.3692G>C
ENST00000682607.1:c.1526G>C
ENST00000682779.1:c.3099G>C	ENSP00000507947.1:p.Gln1033His
ENST00000682845.1:n.2210G>C
ENST00000682885.1:c.3063G>C	ENSP00000508036.1:p.Gln1021His
ENST00000682933.1:n.3182G>C
ENST00000683072.1:n.3692G>C
ENST00000683080.1:n.727G>C
ENST00000683125.1:c.3216G>C	ENSP00000507939.1:p.Gln1072His
ENST00000683213.1:c.3111G>C	ENSP00000507751.1:p.Gln1037His
ENST00000683220.1:c.3138G>C	ENSP00000507151.1:p.Gln1046His
ENST00000683329.1:n.3911G>C
ENST00000683346.1:c.*2983G>C	ENSP00000507458.1:n.*2983G>C
ENST00000683409.1:n.1715G>C
ENST00000683459.1:n.3695G>C
ENST00000683590.1:c.2897-5507G>C	ENSP00000506820.1:n.2897-5507G>C
ENST00000683623.1:c.3015G>C	ENSP00000507702.1:p.Gln1005His
ENST00000683645.1:n.3659G>C
ENST00000683796.1:c.*2980G>C	ENSP00000508221.1:n.*2980G>C
ENST00000683802.1:n.6033G>C
ENST00000683833.1:c.3099G>C	ENSP00000506852.1:p.Gln1033His
ENST00000683994.1:c.3108G>C	ENSP00000507181.1:p.Gln1036His
ENST00000684290.1:c.*644G>C	ENSP00000507243.1:n.*644G>C
ENST00000684306.1:c.*3021G>C	ENSP00000508384.1:n.*3021G>C
ENST00000684341.1:n.3128G>C
ENST00000684383.1:c.*2746G>C	ENSP00000506863.1:n.*2746G>C
ENST00000684619.1:c.*2980G>C	ENSP00000508088.1:n.*2980G>C
ENST00000684705.1:n.229G>C
ENST00000684743.1:n.4139G>C
ENST00000260665.12:c.3108G>C MANE Select	ENSP00000260665.7:p.Gln1036His
ENST00000260665.11:c.3108G>C	ENSP00000260665.7:p.Gln1036His
NM_133259.3:c.3108G>C	NP_573566.2:p.Gln1036His
XM_006711915.2:c.3030G>C	XP_006711978.1:p.Gln1010His
XM_006711916.2:c.3108G>C	XP_006711979.1:p.Gln1036His
XM_011532473.1:c.3108G>C	XP_011530775.1:p.Gln1036His
XM_011532474.1:c.3108G>C	XP_011530776.1:p.Gln1036His
XM_006711916.3:c.3108G>C	XP_006711979.1:p.Gln1036His
XM_017003117.1:c.3030G>C	XP_016858606.1:p.Gln1010His
XR_002958896.1:n.3150G>C
NM_133259.4:c.3108G>C MANE Select	NP_573566.2:p.Gln1036His