Canonical Allele Identifier: CA425908480

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2755037
• ClinVar RCV Id: RCV003564150
• gnomAD v4: 2-43918065-C-T
• MyVariant Identifiers: chr2:g.44145204C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.660G>A
ENST00000682295.1:c.303+191G>A	ENSP00000507499.1:n.303+191G>A
ENST00000682303.1:c.*2894G>A	ENSP00000508325.1:n.*2894G>A
ENST00000682308.1:c.3108G>A	ENSP00000507056.1:p.Gln1036=
ENST00000682480.1:c.3126G>A	ENSP00000508344.1:p.Gln1042=
ENST00000682546.1:c.3105G>A	ENSP00000508188.1:p.Gln1035=
ENST00000682585.1:c.3108G>A	ENSP00000506885.1:p.Gln1036=
ENST00000682595.1:n.3692G>A
ENST00000682607.1:c.1526G>A
ENST00000682779.1:c.3099G>A	ENSP00000507947.1:p.Gln1033=
ENST00000682845.1:n.2210G>A
ENST00000682885.1:c.3063G>A	ENSP00000508036.1:p.Gln1021=
ENST00000682933.1:n.3182G>A
ENST00000683072.1:n.3692G>A
ENST00000683080.1:n.727G>A
ENST00000683125.1:c.3216G>A	ENSP00000507939.1:p.Gln1072=
ENST00000683213.1:c.3111G>A	ENSP00000507751.1:p.Gln1037=
ENST00000683220.1:c.3138G>A	ENSP00000507151.1:p.Gln1046=
ENST00000683329.1:n.3911G>A
ENST00000683346.1:c.*2983G>A	ENSP00000507458.1:n.*2983G>A
ENST00000683409.1:n.1715G>A
ENST00000683459.1:n.3695G>A
ENST00000683590.1:c.2897-5507G>A	ENSP00000506820.1:n.2897-5507G>A
ENST00000683623.1:c.3015G>A	ENSP00000507702.1:p.Gln1005=
ENST00000683645.1:n.3659G>A
ENST00000683796.1:c.*2980G>A	ENSP00000508221.1:n.*2980G>A
ENST00000683802.1:n.6033G>A
ENST00000683833.1:c.3099G>A	ENSP00000506852.1:p.Gln1033=
ENST00000683994.1:c.3108G>A	ENSP00000507181.1:p.Gln1036=
ENST00000684290.1:c.*644G>A	ENSP00000507243.1:n.*644G>A
ENST00000684306.1:c.*3021G>A	ENSP00000508384.1:n.*3021G>A
ENST00000684341.1:n.3128G>A
ENST00000684383.1:c.*2746G>A	ENSP00000506863.1:n.*2746G>A
ENST00000684619.1:c.*2980G>A	ENSP00000508088.1:n.*2980G>A
ENST00000684705.1:n.229G>A
ENST00000684743.1:n.4139G>A
ENST00000260665.12:c.3108G>A MANE Select	ENSP00000260665.7:p.Gln1036=
ENST00000260665.11:c.3108G>A	ENSP00000260665.7:p.Gln1036=
NM_133259.3:c.3108G>A	NP_573566.2:p.Gln1036=
XM_006711915.2:c.3030G>A	XP_006711978.1:p.Gln1010=
XM_006711916.2:c.3108G>A	XP_006711979.1:p.Gln1036=
XM_011532473.1:c.3108G>A	XP_011530775.1:p.Gln1036=
XM_011532474.1:c.3108G>A	XP_011530776.1:p.Gln1036=
XM_006711916.3:c.3108G>A	XP_006711979.1:p.Gln1036=
XM_017003117.1:c.3030G>A	XP_016858606.1:p.Gln1010=
XR_002958896.1:n.3150G>A
NM_133259.4:c.3108G>A MANE Select	NP_573566.2:p.Gln1036=