Canonical Allele Identifier: CA425909301
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126460C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899321C>G , CM000664.2:g.43899321C>G GRCh38
NC_000002.11:g.44126460C>G , CM000664.1:g.44126460C>G GRCh37
NC_000002.10:g.43979964C>G NCBI36
NG_008247.1:g.101685G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.154G>C
ENST00000472420.6:n.802G>C
ENST00000483489.2:n.154G>C
ENST00000681993.1:n.1275G>C
ENST00000682303.1:c.*3509G>C ENSP00000508325.1:n.*3509G>C
ENST00000682308.1:c.3723G>C ENSP00000507056.1:p.Ala1241=
ENST00000682434.1:n.1274G>C
ENST00000682480.1:c.3741G>C ENSP00000508344.1:p.Ala1247=
ENST00000682546.1:c.3720G>C ENSP00000508188.1:p.Ala1240=
ENST00000682585.1:c.3723G>C ENSP00000506885.1:p.Ala1241=
ENST00000682595.1:n.4307G>C
ENST00000682607.1:c.2141G>C
ENST00000682612.1:c.575G>C
ENST00000682779.1:c.3714G>C ENSP00000507947.1:p.Ala1238=
ENST00000682845.1:n.2825G>C
ENST00000682885.1:c.3678G>C ENSP00000508036.1:p.Ala1226=
ENST00000682933.1:n.3797G>C
ENST00000683002.1:c.575G>C
ENST00000683072.1:n.4307G>C
ENST00000683080.1:n.1342G>C
ENST00000683125.1:c.3831G>C ENSP00000507939.1:p.Ala1277=
ENST00000683213.1:c.3726G>C ENSP00000507751.1:p.Ala1242=
ENST00000683220.1:c.3753G>C ENSP00000507151.1:p.Ala1251=
ENST00000683329.1:n.4526G>C
ENST00000683346.1:c.*3598G>C ENSP00000507458.1:n.*3598G>C
ENST00000683409.1:n.2330G>C
ENST00000683459.1:n.4310G>C
ENST00000683528.1:c.651G>C
ENST00000683590.1:c.3471G>C ENSP00000506820.1:p.Ala1157=
ENST00000683623.1:c.3630G>C ENSP00000507702.1:p.Ala1210=
ENST00000683645.1:n.4274G>C
ENST00000683796.1:c.*3595G>C ENSP00000508221.1:n.*3595G>C
ENST00000683802.1:n.6648G>C
ENST00000683833.1:c.3714G>C ENSP00000506852.1:p.Ala1238=
ENST00000683994.1:c.3723G>C ENSP00000507181.1:p.Ala1241=
ENST00000684290.1:c.*1259G>C ENSP00000507243.1:n.*1259G>C
ENST00000684306.1:c.*3636G>C ENSP00000508384.1:n.*3636G>C
ENST00000684341.1:n.3743G>C
ENST00000684383.1:c.*3361G>C ENSP00000506863.1:n.*3361G>C
ENST00000684418.1:n.4904G>C
ENST00000684433.1:n.107G>C
ENST00000684454.1:n.3073G>C
ENST00000684619.1:c.*3595G>C ENSP00000508088.1:n.*3595G>C
ENST00000684743.1:n.6468G>C
ENST00000260665.12:c.3723G>C MANE Select ENSP00000260665.7:p.Ala1241=
ENST00000260665.11:c.3723G>C ENSP00000260665.7:p.Ala1241=
ENST00000463456.5:n.2766G>C
ENST00000472420.5:n.120G>C
ENST00000483489.1:n.197G>C
NM_133259.3:c.3723G>C NP_573566.2:p.Ala1241=
XM_006711915.2:c.3645G>C XP_006711978.1:p.Ala1215=
XM_011532473.1:c.3723G>C XP_011530775.1:p.Ala1241=
XM_011532474.1:c.3723G>C XP_011530776.1:p.Ala1241=
XM_017003117.1:c.3645G>C XP_016858606.1:p.Ala1215=
XR_002958896.1:n.3765G>C
NM_133259.4:c.3723G>C MANE Select NP_573566.2:p.Ala1241=