Canonical Allele Identifier: CA1638207

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 516159
• ClinVar RCV Id: RCV000602677 ; RCV000944584
• dbSNP Id: rs760063530
• ExAC: 2:44145234 C / T
• gnomAD v2: 2-44145234-C-T
• gnomAD v3: 2-43918095-C-T
• gnomAD v4: 2-43918095-C-T
• MyVariant Identifiers: chr2:g.44145234C>T (hg19) ; chr2:g.43918095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918095C>T , CM000664.2:g.43918095C>T	GRCh38
NC_000002.11:g.44145234C>T , CM000664.1:g.44145234C>T	GRCh37
NC_000002.10:g.43998738C>T	NCBI36
NG_008247.1:g.82911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.630G>A
ENST00000682295.1:c.303+161G>A	ENSP00000507499.1:n.303+161G>A
ENST00000682303.1:c.*2864G>A	ENSP00000508325.1:n.*2864G>A
ENST00000682308.1:c.3078G>A	ENSP00000507056.1:p.Ser1026=
ENST00000682480.1:c.3096G>A	ENSP00000508344.1:p.Ser1032=
ENST00000682546.1:c.3075G>A	ENSP00000508188.1:p.Ser1025=
ENST00000682585.1:c.3078G>A	ENSP00000506885.1:p.Ser1026=
ENST00000682595.1:n.3662G>A
ENST00000682607.1:c.1496G>A
ENST00000682779.1:c.3069G>A	ENSP00000507947.1:p.Ser1023=
ENST00000682845.1:n.2180G>A
ENST00000682885.1:c.3033G>A	ENSP00000508036.1:p.Ser1011=
ENST00000682933.1:n.3152G>A
ENST00000683072.1:n.3662G>A
ENST00000683080.1:n.697G>A
ENST00000683125.1:c.3186G>A	ENSP00000507939.1:p.Ser1062=
ENST00000683213.1:c.3081G>A	ENSP00000507751.1:p.Ser1027=
ENST00000683220.1:c.3108G>A	ENSP00000507151.1:p.Ser1036=
ENST00000683329.1:n.3881G>A
ENST00000683346.1:c.*2953G>A	ENSP00000507458.1:n.*2953G>A
ENST00000683409.1:n.1685G>A
ENST00000683459.1:n.3665G>A
ENST00000683590.1:c.2897-5537G>A	ENSP00000506820.1:n.2897-5537G>A
ENST00000683623.1:c.2985G>A	ENSP00000507702.1:p.Ser995=
ENST00000683645.1:n.3629G>A
ENST00000683796.1:c.*2950G>A	ENSP00000508221.1:n.*2950G>A
ENST00000683802.1:n.6003G>A
ENST00000683833.1:c.3069G>A	ENSP00000506852.1:p.Ser1023=
ENST00000683994.1:c.3078G>A	ENSP00000507181.1:p.Ser1026=
ENST00000684290.1:c.*614G>A	ENSP00000507243.1:n.*614G>A
ENST00000684306.1:c.*2991G>A	ENSP00000508384.1:n.*2991G>A
ENST00000684341.1:n.3098G>A
ENST00000684383.1:c.*2716G>A	ENSP00000506863.1:n.*2716G>A
ENST00000684619.1:c.*2950G>A	ENSP00000508088.1:n.*2950G>A
ENST00000684705.1:n.199G>A
ENST00000684743.1:n.4109G>A
ENST00000260665.12:c.3078G>A MANE Select	ENSP00000260665.7:p.Ser1026=
ENST00000260665.11:c.3078G>A	ENSP00000260665.7:p.Ser1026=
NM_133259.3:c.3078G>A	NP_573566.2:p.Ser1026=
XM_006711915.2:c.3000G>A	XP_006711978.1:p.Ser1000=
XM_006711916.2:c.3078G>A	XP_006711979.1:p.Ser1026=
XM_011532473.1:c.3078G>A	XP_011530775.1:p.Ser1026=
XM_011532474.1:c.3078G>A	XP_011530776.1:p.Ser1026=
XM_006711916.3:c.3078G>A	XP_006711979.1:p.Ser1026=
XM_017003117.1:c.3000G>A	XP_016858606.1:p.Ser1000=
XR_002958896.1:n.3120G>A
NM_133259.4:c.3078G>A MANE Select	NP_573566.2:p.Ser1026=