Canonical Allele Identifier: CA425908472
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44145192C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918053C>T , CM000664.2:g.43918053C>T GRCh38
NC_000002.11:g.44145192C>T , CM000664.1:g.44145192C>T GRCh37
NC_000002.10:g.43998696C>T NCBI36
NG_008247.1:g.82953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.672G>A
ENST00000682295.1:c.303+203G>A ENSP00000507499.1:n.303+203G>A
ENST00000682303.1:c.*2906G>A ENSP00000508325.1:n.*2906G>A
ENST00000682308.1:c.3120G>A ENSP00000507056.1:p.Leu1040=
ENST00000682480.1:c.3138G>A ENSP00000508344.1:p.Leu1046=
ENST00000682546.1:c.3117G>A ENSP00000508188.1:p.Leu1039=
ENST00000682585.1:c.3120G>A ENSP00000506885.1:p.Leu1040=
ENST00000682595.1:n.3704G>A
ENST00000682607.1:c.1538G>A
ENST00000682779.1:c.3111G>A ENSP00000507947.1:p.Leu1037=
ENST00000682845.1:n.2222G>A
ENST00000682885.1:c.3075G>A ENSP00000508036.1:p.Leu1025=
ENST00000682933.1:n.3194G>A
ENST00000683072.1:n.3704G>A
ENST00000683080.1:n.739G>A
ENST00000683125.1:c.3228G>A ENSP00000507939.1:p.Leu1076=
ENST00000683213.1:c.3123G>A ENSP00000507751.1:p.Leu1041=
ENST00000683220.1:c.3150G>A ENSP00000507151.1:p.Leu1050=
ENST00000683329.1:n.3923G>A
ENST00000683346.1:c.*2995G>A ENSP00000507458.1:n.*2995G>A
ENST00000683409.1:n.1727G>A
ENST00000683459.1:n.3707G>A
ENST00000683590.1:c.2897-5495G>A ENSP00000506820.1:n.2897-5495G>A
ENST00000683623.1:c.3027G>A ENSP00000507702.1:p.Leu1009=
ENST00000683645.1:n.3671G>A
ENST00000683796.1:c.*2992G>A ENSP00000508221.1:n.*2992G>A
ENST00000683802.1:n.6045G>A
ENST00000683833.1:c.3111G>A ENSP00000506852.1:p.Leu1037=
ENST00000683994.1:c.3120G>A ENSP00000507181.1:p.Leu1040=
ENST00000684290.1:c.*656G>A ENSP00000507243.1:n.*656G>A
ENST00000684306.1:c.*3033G>A ENSP00000508384.1:n.*3033G>A
ENST00000684341.1:n.3140G>A
ENST00000684383.1:c.*2758G>A ENSP00000506863.1:n.*2758G>A
ENST00000684619.1:c.*2992G>A ENSP00000508088.1:n.*2992G>A
ENST00000684705.1:n.241G>A
ENST00000684743.1:n.4151G>A
ENST00000260665.12:c.3120G>A MANE Select ENSP00000260665.7:p.Leu1040=
ENST00000260665.11:c.3120G>A ENSP00000260665.7:p.Leu1040=
NM_133259.3:c.3120G>A NP_573566.2:p.Leu1040=
XM_006711915.2:c.3042G>A XP_006711978.1:p.Leu1014=
XM_006711916.2:c.3120G>A XP_006711979.1:p.Leu1040=
XM_011532473.1:c.3120G>A XP_011530775.1:p.Leu1040=
XM_011532474.1:c.3120G>A XP_011530776.1:p.Leu1040=
XM_006711916.3:c.3120G>A XP_006711979.1:p.Leu1040=
XM_017003117.1:c.3042G>A XP_016858606.1:p.Leu1014=
XR_002958896.1:n.3162G>A
NM_133259.4:c.3120G>A MANE Select NP_573566.2:p.Leu1040=