Canonical Allele Identifier: CA425908174

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132837A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905698A>G , CM000664.2:g.43905698A>G	GRCh38
NC_000002.11:g.44132837A>G , CM000664.1:g.44132837A>G	GRCh37
NC_000002.10:g.43986341A>G	NCBI36
NG_008247.1:g.95308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.437T>C
ENST00000681993.1:n.910T>C
ENST00000682295.1:c.513T>C	ENSP00000507499.1:n.513T>C
ENST00000682303.1:c.*3144T>C	ENSP00000508325.1:n.*3144T>C
ENST00000682308.1:c.3358T>C	ENSP00000507056.1:p.Leu1120=
ENST00000682480.1:c.3376T>C	ENSP00000508344.1:p.Leu1126=
ENST00000682546.1:c.3355T>C	ENSP00000508188.1:p.Leu1119=
ENST00000682585.1:c.3358T>C	ENSP00000506885.1:p.Leu1120=
ENST00000682595.1:n.3942T>C
ENST00000682607.1:c.1776T>C
ENST00000682612.1:c.210T>C
ENST00000682779.1:c.3349T>C	ENSP00000507947.1:p.Leu1117=
ENST00000682845.1:n.2460T>C
ENST00000682885.1:c.3313T>C	ENSP00000508036.1:p.Leu1105=
ENST00000682933.1:n.3432T>C
ENST00000683002.1:c.210T>C
ENST00000683072.1:n.3942T>C
ENST00000683080.1:n.977T>C
ENST00000683125.1:c.3466T>C	ENSP00000507939.1:p.Leu1156=
ENST00000683213.1:c.3361T>C	ENSP00000507751.1:p.Leu1121=
ENST00000683220.1:c.3388T>C	ENSP00000507151.1:p.Leu1130=
ENST00000683329.1:n.4161T>C
ENST00000683346.1:c.*3233T>C	ENSP00000507458.1:n.*3233T>C
ENST00000683409.1:n.1965T>C
ENST00000683459.1:n.3945T>C
ENST00000683528.1:c.210T>C
ENST00000683590.1:c.3106T>C	ENSP00000506820.1:p.Leu1036=
ENST00000683623.1:c.3265T>C	ENSP00000507702.1:p.Leu1089=
ENST00000683645.1:n.3909T>C
ENST00000683796.1:c.*3230T>C	ENSP00000508221.1:n.*3230T>C
ENST00000683802.1:n.6283T>C
ENST00000683833.1:c.3349T>C	ENSP00000506852.1:p.Leu1117=
ENST00000683994.1:c.3358T>C	ENSP00000507181.1:p.Leu1120=
ENST00000684290.1:c.*894T>C	ENSP00000507243.1:n.*894T>C
ENST00000684306.1:c.*3271T>C	ENSP00000508384.1:n.*3271T>C
ENST00000684341.1:n.3378T>C
ENST00000684383.1:c.*2996T>C	ENSP00000506863.1:n.*2996T>C
ENST00000684418.1:n.4539T>C
ENST00000684454.1:n.2708T>C
ENST00000684619.1:c.*3230T>C	ENSP00000508088.1:n.*3230T>C
ENST00000684743.1:n.4389T>C
ENST00000260665.12:c.3358T>C MANE Select	ENSP00000260665.7:p.Leu1120=
ENST00000260665.11:c.3358T>C	ENSP00000260665.7:p.Leu1120=
NM_133259.3:c.3358T>C	NP_573566.2:p.Leu1120=
XM_006711915.2:c.3280T>C	XP_006711978.1:p.Leu1094=
XM_011532473.1:c.3358T>C	XP_011530775.1:p.Leu1120=
XM_011532474.1:c.3358T>C	XP_011530776.1:p.Leu1120=
XM_017003117.1:c.3280T>C	XP_016858606.1:p.Leu1094=
XR_002958896.1:n.3400T>C
NM_133259.4:c.3358T>C MANE Select	NP_573566.2:p.Leu1120=