Canonical Allele Identifier: CA425909293

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1923989
• ClinVar RCV Id: RCV002609280
• dbSNP Id: rs2104989384
• MyVariant Identifiers: chr2:g.44126448G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899309G>A , CM000664.2:g.43899309G>A	GRCh38
NC_000002.11:g.44126448G>A , CM000664.1:g.44126448G>A	GRCh37
NC_000002.10:g.43979952G>A	NCBI36
NG_008247.1:g.101697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.166C>T
ENST00000472420.6:n.814C>T
ENST00000483489.2:n.166C>T
ENST00000681993.1:n.1287C>T
ENST00000682303.1:c.*3521C>T	ENSP00000508325.1:n.*3521C>T
ENST00000682308.1:c.3735C>T	ENSP00000507056.1:p.Ala1245=
ENST00000682434.1:n.1286C>T
ENST00000682480.1:c.3753C>T	ENSP00000508344.1:p.Ala1251=
ENST00000682546.1:c.3732C>T	ENSP00000508188.1:p.Ala1244=
ENST00000682585.1:c.3735C>T	ENSP00000506885.1:p.Ala1245=
ENST00000682595.1:n.4319C>T
ENST00000682607.1:c.2153C>T
ENST00000682612.1:c.587C>T
ENST00000682779.1:c.3726C>T	ENSP00000507947.1:p.Ala1242=
ENST00000682845.1:n.2837C>T
ENST00000682885.1:c.3690C>T	ENSP00000508036.1:p.Ala1230=
ENST00000682933.1:n.3809C>T
ENST00000683002.1:c.587C>T
ENST00000683072.1:n.4319C>T
ENST00000683080.1:n.1354C>T
ENST00000683125.1:c.3843C>T	ENSP00000507939.1:p.Ala1281=
ENST00000683213.1:c.3738C>T	ENSP00000507751.1:p.Ala1246=
ENST00000683220.1:c.3765C>T	ENSP00000507151.1:p.Ala1255=
ENST00000683329.1:n.4538C>T
ENST00000683346.1:c.*3610C>T	ENSP00000507458.1:n.*3610C>T
ENST00000683409.1:n.2342C>T
ENST00000683459.1:n.4322C>T
ENST00000683528.1:c.663C>T
ENST00000683590.1:c.3483C>T	ENSP00000506820.1:p.Ala1161=
ENST00000683623.1:c.3642C>T	ENSP00000507702.1:p.Ala1214=
ENST00000683645.1:n.4286C>T
ENST00000683796.1:c.*3607C>T	ENSP00000508221.1:n.*3607C>T
ENST00000683802.1:n.6660C>T
ENST00000683833.1:c.3726C>T	ENSP00000506852.1:p.Ala1242=
ENST00000683994.1:c.3735C>T	ENSP00000507181.1:p.Ala1245=
ENST00000684290.1:c.*1271C>T	ENSP00000507243.1:n.*1271C>T
ENST00000684306.1:c.*3648C>T	ENSP00000508384.1:n.*3648C>T
ENST00000684341.1:n.3755C>T
ENST00000684383.1:c.*3373C>T	ENSP00000506863.1:n.*3373C>T
ENST00000684418.1:n.4916C>T
ENST00000684433.1:n.119C>T
ENST00000684454.1:n.3085C>T
ENST00000684619.1:c.*3607C>T	ENSP00000508088.1:n.*3607C>T
ENST00000684743.1:n.6480C>T
ENST00000260665.12:c.3735C>T MANE Select	ENSP00000260665.7:p.Ala1245=
ENST00000260665.11:c.3735C>T	ENSP00000260665.7:p.Ala1245=
ENST00000463456.5:n.2778C>T
ENST00000472420.5:n.132C>T
ENST00000483489.1:n.209C>T
NM_133259.3:c.3735C>T	NP_573566.2:p.Ala1245=
XM_006711915.2:c.3657C>T	XP_006711978.1:p.Ala1219=
XM_011532473.1:c.3735C>T	XP_011530775.1:p.Ala1245=
XM_011532474.1:c.3735C>T	XP_011530776.1:p.Ala1245=
XM_017003117.1:c.3657C>T	XP_016858606.1:p.Ala1219=
XR_002958896.1:n.3777C>T
NM_133259.4:c.3735C>T MANE Select	NP_573566.2:p.Ala1245=