Canonical Allele Identifier: CA1637964

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1156116
• ClinVar RCV Id: RCV001498660
• dbSNP Id: rs779041724
• ExAC: 2:44126460 C / T
• gnomAD v2: 2-44126460-C-T
• gnomAD v3: 2-43899321-C-T
• gnomAD v4: 2-43899321-C-T
• MyVariant Identifiers: chr2:g.44126460C>T (hg19) ; chr2:g.43899321C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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