Canonical Allele Identifier: CA425908519
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145234C>G (hg19)

Genomic Alleles

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

Transcript Alleles

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