Canonical Allele Identifier: CA425908237

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905753-T-G
• MyVariant Identifiers: chr2:g.44132892T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905753T>G , CM000664.2:g.43905753T>G	GRCh38
NC_000002.11:g.44132892T>G , CM000664.1:g.44132892T>G	GRCh37
NC_000002.10:g.43986396T>G	NCBI36
NG_008247.1:g.95253A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.382A>C
ENST00000681993.1:n.855A>C
ENST00000682295.1:c.458A>C	ENSP00000507499.1:n.458A>C
ENST00000682303.1:c.*3089A>C	ENSP00000508325.1:n.*3089A>C
ENST00000682308.1:c.3303A>C	ENSP00000507056.1:p.Thr1101=
ENST00000682480.1:c.3321A>C	ENSP00000508344.1:p.Thr1107=
ENST00000682546.1:c.3300A>C	ENSP00000508188.1:p.Thr1100=
ENST00000682585.1:c.3303A>C	ENSP00000506885.1:p.Thr1101=
ENST00000682595.1:n.3887A>C
ENST00000682607.1:c.1721A>C
ENST00000682612.1:c.155A>C
ENST00000682779.1:c.3294A>C	ENSP00000507947.1:p.Thr1098=
ENST00000682845.1:n.2405A>C
ENST00000682885.1:c.3258A>C	ENSP00000508036.1:p.Thr1086=
ENST00000682933.1:n.3377A>C
ENST00000683002.1:c.155A>C
ENST00000683072.1:n.3887A>C
ENST00000683080.1:n.922A>C
ENST00000683125.1:c.3411A>C	ENSP00000507939.1:p.Thr1137=
ENST00000683213.1:c.3306A>C	ENSP00000507751.1:p.Thr1102=
ENST00000683220.1:c.3333A>C	ENSP00000507151.1:p.Thr1111=
ENST00000683329.1:n.4106A>C
ENST00000683346.1:c.*3178A>C	ENSP00000507458.1:n.*3178A>C
ENST00000683409.1:n.1910A>C
ENST00000683459.1:n.3890A>C
ENST00000683528.1:c.155A>C
ENST00000683590.1:c.3051A>C	ENSP00000506820.1:p.Thr1017=
ENST00000683623.1:c.3210A>C	ENSP00000507702.1:p.Thr1070=
ENST00000683645.1:n.3854A>C
ENST00000683796.1:c.*3175A>C	ENSP00000508221.1:n.*3175A>C
ENST00000683802.1:n.6228A>C
ENST00000683833.1:c.3294A>C	ENSP00000506852.1:p.Thr1098=
ENST00000683994.1:c.3303A>C	ENSP00000507181.1:p.Thr1101=
ENST00000684290.1:c.*839A>C	ENSP00000507243.1:n.*839A>C
ENST00000684306.1:c.*3216A>C	ENSP00000508384.1:n.*3216A>C
ENST00000684341.1:n.3323A>C
ENST00000684383.1:c.*2941A>C	ENSP00000506863.1:n.*2941A>C
ENST00000684418.1:n.4484A>C
ENST00000684454.1:n.2653A>C
ENST00000684619.1:c.*3175A>C	ENSP00000508088.1:n.*3175A>C
ENST00000684743.1:n.4334A>C
ENST00000260665.12:c.3303A>C MANE Select	ENSP00000260665.7:p.Thr1101=
ENST00000260665.11:c.3303A>C	ENSP00000260665.7:p.Thr1101=
NM_133259.3:c.3303A>C	NP_573566.2:p.Thr1101=
XM_006711915.2:c.3225A>C	XP_006711978.1:p.Thr1075=
XM_011532473.1:c.3303A>C	XP_011530775.1:p.Thr1101=
XM_011532474.1:c.3303A>C	XP_011530776.1:p.Thr1101=
XM_017003117.1:c.3225A>C	XP_016858606.1:p.Thr1075=
XR_002958896.1:n.3345A>C
NM_133259.4:c.3303A>C MANE Select	NP_573566.2:p.Thr1101=