Canonical Allele Identifier: CA346665082

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.377T>G
ENST00000681993.1:n.850T>G
ENST00000682295.1:c.453T>G	ENSP00000507499.1:n.453T>G
ENST00000682303.1:c.*3084T>G	ENSP00000508325.1:n.*3084T>G
ENST00000682308.1:c.3298T>G	ENSP00000507056.1:p.Phe1100Val
ENST00000682480.1:c.3316T>G	ENSP00000508344.1:p.Phe1106Val
ENST00000682546.1:c.3295T>G	ENSP00000508188.1:p.Phe1099Val
ENST00000682585.1:c.3298T>G	ENSP00000506885.1:p.Phe1100Val
ENST00000682595.1:n.3882T>G
ENST00000682607.1:c.1716T>G
ENST00000682612.1:c.150T>G
ENST00000682779.1:c.3289T>G	ENSP00000507947.1:p.Phe1097Val
ENST00000682845.1:n.2400T>G
ENST00000682885.1:c.3253T>G	ENSP00000508036.1:p.Phe1085Val
ENST00000682933.1:n.3372T>G
ENST00000683002.1:c.150T>G
ENST00000683072.1:n.3882T>G
ENST00000683080.1:n.917T>G
ENST00000683125.1:c.3406T>G	ENSP00000507939.1:p.Phe1136Val
ENST00000683213.1:c.3301T>G	ENSP00000507751.1:p.Phe1101Val
ENST00000683220.1:c.3328T>G	ENSP00000507151.1:p.Phe1110Val
ENST00000683329.1:n.4101T>G
ENST00000683346.1:c.*3173T>G	ENSP00000507458.1:n.*3173T>G
ENST00000683409.1:n.1905T>G
ENST00000683459.1:n.3885T>G
ENST00000683528.1:c.150T>G
ENST00000683590.1:c.3046T>G	ENSP00000506820.1:p.Phe1016Val
ENST00000683623.1:c.3205T>G	ENSP00000507702.1:p.Phe1069Val
ENST00000683645.1:n.3849T>G
ENST00000683796.1:c.*3170T>G	ENSP00000508221.1:n.*3170T>G
ENST00000683802.1:n.6223T>G
ENST00000683833.1:c.3289T>G	ENSP00000506852.1:p.Phe1097Val
ENST00000683994.1:c.3298T>G	ENSP00000507181.1:p.Phe1100Val
ENST00000684290.1:c.*834T>G	ENSP00000507243.1:n.*834T>G
ENST00000684306.1:c.*3211T>G	ENSP00000508384.1:n.*3211T>G
ENST00000684341.1:n.3318T>G
ENST00000684383.1:c.*2936T>G	ENSP00000506863.1:n.*2936T>G
ENST00000684418.1:n.4479T>G
ENST00000684454.1:n.2648T>G
ENST00000684619.1:c.*3170T>G	ENSP00000508088.1:n.*3170T>G
ENST00000684743.1:n.4329T>G
ENST00000260665.12:c.3298T>G MANE Select	ENSP00000260665.7:p.Phe1100Val
ENST00000260665.11:c.3298T>G	ENSP00000260665.7:p.Phe1100Val
NM_133259.3:c.3298T>G	NP_573566.2:p.Phe1100Val
XM_006711915.2:c.3220T>G	XP_006711978.1:p.Phe1074Val
XM_011532473.1:c.3298T>G	XP_011530775.1:p.Phe1100Val
XM_011532474.1:c.3298T>G	XP_011530776.1:p.Phe1100Val
XM_017003117.1:c.3220T>G	XP_016858606.1:p.Phe1074Val
XR_002958896.1:n.3340T>G
NM_133259.4:c.3298T>G MANE Select	NP_573566.2:p.Phe1100Val