Canonical Allele Identifier: CA1637959

Gene: LRPPRC

Linked Data

• dbSNP Id: rs760606847
• ExAC: 2:44126436 T / C
• gnomAD v2: 2-44126436-T-C
• MyVariant Identifiers: chr2:g.44126436T>C (hg19) ; chr2:g.43899297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899297T>C , CM000664.2:g.43899297T>C	GRCh38
NC_000002.11:g.44126436T>C , CM000664.1:g.44126436T>C	GRCh37
NC_000002.10:g.43979940T>C	NCBI36
NG_008247.1:g.101709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.178A>G
ENST00000472420.6:n.826A>G
ENST00000483489.2:n.178A>G
ENST00000681993.1:n.1299A>G
ENST00000682303.1:c.*3533A>G	ENSP00000508325.1:n.*3533A>G
ENST00000682308.1:c.3747A>G	ENSP00000507056.1:p.Ala1249=
ENST00000682434.1:n.1298A>G
ENST00000682480.1:c.3765A>G	ENSP00000508344.1:p.Ala1255=
ENST00000682546.1:c.3744A>G	ENSP00000508188.1:p.Ala1248=
ENST00000682585.1:c.3747A>G	ENSP00000506885.1:p.Ala1249=
ENST00000682595.1:n.4331A>G
ENST00000682607.1:c.2165A>G
ENST00000682612.1:c.599A>G
ENST00000682779.1:c.3738A>G	ENSP00000507947.1:p.Ala1246=
ENST00000682845.1:n.2849A>G
ENST00000682885.1:c.3702A>G	ENSP00000508036.1:p.Ala1234=
ENST00000682933.1:n.3821A>G
ENST00000683002.1:c.599A>G
ENST00000683072.1:n.4331A>G
ENST00000683080.1:n.1366A>G
ENST00000683125.1:c.3855A>G	ENSP00000507939.1:p.Ala1285=
ENST00000683213.1:c.3750A>G	ENSP00000507751.1:p.Ala1250=
ENST00000683220.1:c.3777A>G	ENSP00000507151.1:p.Ala1259=
ENST00000683329.1:n.4550A>G
ENST00000683346.1:c.*3622A>G	ENSP00000507458.1:n.*3622A>G
ENST00000683409.1:n.2354A>G
ENST00000683459.1:n.4334A>G
ENST00000683528.1:c.675A>G
ENST00000683590.1:c.3495A>G	ENSP00000506820.1:p.Ala1165=
ENST00000683623.1:c.3654A>G	ENSP00000507702.1:p.Ala1218=
ENST00000683645.1:n.4298A>G
ENST00000683796.1:c.*3619A>G	ENSP00000508221.1:n.*3619A>G
ENST00000683802.1:n.6672A>G
ENST00000683833.1:c.3738A>G	ENSP00000506852.1:p.Ala1246=
ENST00000683994.1:c.3747A>G	ENSP00000507181.1:p.Ala1249=
ENST00000684290.1:c.*1283A>G	ENSP00000507243.1:n.*1283A>G
ENST00000684306.1:c.*3660A>G	ENSP00000508384.1:n.*3660A>G
ENST00000684341.1:n.3767A>G
ENST00000684383.1:c.*3385A>G	ENSP00000506863.1:n.*3385A>G
ENST00000684418.1:n.4928A>G
ENST00000684433.1:n.131A>G
ENST00000684454.1:n.3097A>G
ENST00000684619.1:c.*3619A>G	ENSP00000508088.1:n.*3619A>G
ENST00000684743.1:n.6492A>G
ENST00000260665.12:c.3747A>G MANE Select	ENSP00000260665.7:p.Ala1249=
ENST00000260665.11:c.3747A>G	ENSP00000260665.7:p.Ala1249=
ENST00000463456.5:n.2790A>G
ENST00000472420.5:n.144A>G
ENST00000483489.1:n.221A>G
NM_133259.3:c.3747A>G	NP_573566.2:p.Ala1249=
XM_006711915.2:c.3669A>G	XP_006711978.1:p.Ala1223=
XM_011532473.1:c.3747A>G	XP_011530775.1:p.Ala1249=
XM_011532474.1:c.3747A>G	XP_011530776.1:p.Ala1249=
XM_017003117.1:c.3669A>G	XP_016858606.1:p.Ala1223=
XR_002958896.1:n.3789A>G
NM_133259.4:c.3747A>G MANE Select	NP_573566.2:p.Ala1249=