Canonical Allele Identifier: CA346668361

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145269A>G (hg19) ; chr2:g.43918130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918130A>G , CM000664.2:g.43918130A>G	GRCh38
NC_000002.11:g.44145269A>G , CM000664.1:g.44145269A>G	GRCh37
NC_000002.10:g.43998773A>G	NCBI36
NG_008247.1:g.82876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.595T>C
ENST00000682295.1:c.303+126T>C	ENSP00000507499.1:n.303+126T>C
ENST00000682303.1:c.*2829T>C	ENSP00000508325.1:n.*2829T>C
ENST00000682308.1:c.3043T>C	ENSP00000507056.1:p.Trp1015Arg
ENST00000682480.1:c.3061T>C	ENSP00000508344.1:p.Trp1021Arg
ENST00000682546.1:c.3040T>C	ENSP00000508188.1:p.Trp1014Arg
ENST00000682585.1:c.3043T>C	ENSP00000506885.1:p.Trp1015Arg
ENST00000682595.1:n.3627T>C
ENST00000682607.1:c.1461T>C
ENST00000682779.1:c.3034T>C	ENSP00000507947.1:p.Trp1012Arg
ENST00000682845.1:n.2145T>C
ENST00000682885.1:c.2998T>C	ENSP00000508036.1:p.Trp1000Arg
ENST00000682933.1:n.3117T>C
ENST00000683072.1:n.3627T>C
ENST00000683080.1:n.662T>C
ENST00000683125.1:c.3151T>C	ENSP00000507939.1:p.Trp1051Arg
ENST00000683213.1:c.3046T>C	ENSP00000507751.1:p.Trp1016Arg
ENST00000683220.1:c.3073T>C	ENSP00000507151.1:p.Trp1025Arg
ENST00000683329.1:n.3846T>C
ENST00000683346.1:c.*2918T>C	ENSP00000507458.1:n.*2918T>C
ENST00000683409.1:n.1650T>C
ENST00000683459.1:n.3630T>C
ENST00000683590.1:c.2897-5572T>C	ENSP00000506820.1:n.2897-5572T>C
ENST00000683623.1:c.2950T>C	ENSP00000507702.1:p.Trp984Arg
ENST00000683645.1:n.3594T>C
ENST00000683796.1:c.*2915T>C	ENSP00000508221.1:n.*2915T>C
ENST00000683802.1:n.5968T>C
ENST00000683833.1:c.3034T>C	ENSP00000506852.1:p.Trp1012Arg
ENST00000683994.1:c.3043T>C	ENSP00000507181.1:p.Trp1015Arg
ENST00000684290.1:c.*579T>C	ENSP00000507243.1:n.*579T>C
ENST00000684306.1:c.*2956T>C	ENSP00000508384.1:n.*2956T>C
ENST00000684341.1:n.3063T>C
ENST00000684383.1:c.*2681T>C	ENSP00000506863.1:n.*2681T>C
ENST00000684619.1:c.*2915T>C	ENSP00000508088.1:n.*2915T>C
ENST00000684705.1:n.164T>C
ENST00000684743.1:n.4074T>C
ENST00000260665.12:c.3043T>C MANE Select	ENSP00000260665.7:p.Trp1015Arg
ENST00000260665.11:c.3043T>C	ENSP00000260665.7:p.Trp1015Arg
NM_133259.3:c.3043T>C	NP_573566.2:p.Trp1015Arg
XM_006711915.2:c.2965T>C	XP_006711978.1:p.Trp989Arg
XM_006711916.2:c.3043T>C	XP_006711979.1:p.Trp1015Arg
XM_011532473.1:c.3043T>C	XP_011530775.1:p.Trp1015Arg
XM_011532474.1:c.3043T>C	XP_011530776.1:p.Trp1015Arg
XM_006711916.3:c.3043T>C	XP_006711979.1:p.Trp1015Arg
XM_017003117.1:c.2965T>C	XP_016858606.1:p.Trp989Arg
XR_002958896.1:n.3085T>C
NM_133259.4:c.3043T>C MANE Select	NP_573566.2:p.Trp1015Arg