Canonical Allele Identifier: CA346665080

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132897A>G (hg19) ; chr2:g.43905758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905758A>G , CM000664.2:g.43905758A>G	GRCh38
NC_000002.11:g.44132897A>G , CM000664.1:g.44132897A>G	GRCh37
NC_000002.10:g.43986401A>G	NCBI36
NG_008247.1:g.95248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.377T>C
ENST00000681993.1:n.850T>C
ENST00000682295.1:c.453T>C	ENSP00000507499.1:n.453T>C
ENST00000682303.1:c.*3084T>C	ENSP00000508325.1:n.*3084T>C
ENST00000682308.1:c.3298T>C	ENSP00000507056.1:p.Phe1100Leu
ENST00000682480.1:c.3316T>C	ENSP00000508344.1:p.Phe1106Leu
ENST00000682546.1:c.3295T>C	ENSP00000508188.1:p.Phe1099Leu
ENST00000682585.1:c.3298T>C	ENSP00000506885.1:p.Phe1100Leu
ENST00000682595.1:n.3882T>C
ENST00000682607.1:c.1716T>C
ENST00000682612.1:c.150T>C
ENST00000682779.1:c.3289T>C	ENSP00000507947.1:p.Phe1097Leu
ENST00000682845.1:n.2400T>C
ENST00000682885.1:c.3253T>C	ENSP00000508036.1:p.Phe1085Leu
ENST00000682933.1:n.3372T>C
ENST00000683002.1:c.150T>C
ENST00000683072.1:n.3882T>C
ENST00000683080.1:n.917T>C
ENST00000683125.1:c.3406T>C	ENSP00000507939.1:p.Phe1136Leu
ENST00000683213.1:c.3301T>C	ENSP00000507751.1:p.Phe1101Leu
ENST00000683220.1:c.3328T>C	ENSP00000507151.1:p.Phe1110Leu
ENST00000683329.1:n.4101T>C
ENST00000683346.1:c.*3173T>C	ENSP00000507458.1:n.*3173T>C
ENST00000683409.1:n.1905T>C
ENST00000683459.1:n.3885T>C
ENST00000683528.1:c.150T>C
ENST00000683590.1:c.3046T>C	ENSP00000506820.1:p.Phe1016Leu
ENST00000683623.1:c.3205T>C	ENSP00000507702.1:p.Phe1069Leu
ENST00000683645.1:n.3849T>C
ENST00000683796.1:c.*3170T>C	ENSP00000508221.1:n.*3170T>C
ENST00000683802.1:n.6223T>C
ENST00000683833.1:c.3289T>C	ENSP00000506852.1:p.Phe1097Leu
ENST00000683994.1:c.3298T>C	ENSP00000507181.1:p.Phe1100Leu
ENST00000684290.1:c.*834T>C	ENSP00000507243.1:n.*834T>C
ENST00000684306.1:c.*3211T>C	ENSP00000508384.1:n.*3211T>C
ENST00000684341.1:n.3318T>C
ENST00000684383.1:c.*2936T>C	ENSP00000506863.1:n.*2936T>C
ENST00000684418.1:n.4479T>C
ENST00000684454.1:n.2648T>C
ENST00000684619.1:c.*3170T>C	ENSP00000508088.1:n.*3170T>C
ENST00000684743.1:n.4329T>C
ENST00000260665.12:c.3298T>C MANE Select	ENSP00000260665.7:p.Phe1100Leu
ENST00000260665.11:c.3298T>C	ENSP00000260665.7:p.Phe1100Leu
NM_133259.3:c.3298T>C	NP_573566.2:p.Phe1100Leu
XM_006711915.2:c.3220T>C	XP_006711978.1:p.Phe1074Leu
XM_011532473.1:c.3298T>C	XP_011530775.1:p.Phe1100Leu
XM_011532474.1:c.3298T>C	XP_011530776.1:p.Phe1100Leu
XM_017003117.1:c.3220T>C	XP_016858606.1:p.Phe1074Leu
XR_002958896.1:n.3340T>C
NM_133259.4:c.3298T>C MANE Select	NP_573566.2:p.Phe1100Leu