Canonical Allele Identifier: CA346668318

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145260C>G (hg19) ; chr2:g.43918121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918121C>G , CM000664.2:g.43918121C>G	GRCh38
NC_000002.11:g.44145260C>G , CM000664.1:g.44145260C>G	GRCh37
NC_000002.10:g.43998764C>G	NCBI36
NG_008247.1:g.82885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.604G>C
ENST00000682295.1:c.303+135G>C	ENSP00000507499.1:n.303+135G>C
ENST00000682303.1:c.*2838G>C	ENSP00000508325.1:n.*2838G>C
ENST00000682308.1:c.3052G>C	ENSP00000507056.1:p.Asp1018His
ENST00000682480.1:c.3070G>C	ENSP00000508344.1:p.Asp1024His
ENST00000682546.1:c.3049G>C	ENSP00000508188.1:p.Asp1017His
ENST00000682585.1:c.3052G>C	ENSP00000506885.1:p.Asp1018His
ENST00000682595.1:n.3636G>C
ENST00000682607.1:c.1470G>C
ENST00000682779.1:c.3043G>C	ENSP00000507947.1:p.Asp1015His
ENST00000682845.1:n.2154G>C
ENST00000682885.1:c.3007G>C	ENSP00000508036.1:p.Asp1003His
ENST00000682933.1:n.3126G>C
ENST00000683072.1:n.3636G>C
ENST00000683080.1:n.671G>C
ENST00000683125.1:c.3160G>C	ENSP00000507939.1:p.Asp1054His
ENST00000683213.1:c.3055G>C	ENSP00000507751.1:p.Asp1019His
ENST00000683220.1:c.3082G>C	ENSP00000507151.1:p.Asp1028His
ENST00000683329.1:n.3855G>C
ENST00000683346.1:c.*2927G>C	ENSP00000507458.1:n.*2927G>C
ENST00000683409.1:n.1659G>C
ENST00000683459.1:n.3639G>C
ENST00000683590.1:c.2897-5563G>C	ENSP00000506820.1:n.2897-5563G>C
ENST00000683623.1:c.2959G>C	ENSP00000507702.1:p.Asp987His
ENST00000683645.1:n.3603G>C
ENST00000683796.1:c.*2924G>C	ENSP00000508221.1:n.*2924G>C
ENST00000683802.1:n.5977G>C
ENST00000683833.1:c.3043G>C	ENSP00000506852.1:p.Asp1015His
ENST00000683994.1:c.3052G>C	ENSP00000507181.1:p.Asp1018His
ENST00000684290.1:c.*588G>C	ENSP00000507243.1:n.*588G>C
ENST00000684306.1:c.*2965G>C	ENSP00000508384.1:n.*2965G>C
ENST00000684341.1:n.3072G>C
ENST00000684383.1:c.*2690G>C	ENSP00000506863.1:n.*2690G>C
ENST00000684619.1:c.*2924G>C	ENSP00000508088.1:n.*2924G>C
ENST00000684705.1:n.173G>C
ENST00000684743.1:n.4083G>C
ENST00000260665.12:c.3052G>C MANE Select	ENSP00000260665.7:p.Asp1018His
ENST00000260665.11:c.3052G>C	ENSP00000260665.7:p.Asp1018His
NM_133259.3:c.3052G>C	NP_573566.2:p.Asp1018His
XM_006711915.2:c.2974G>C	XP_006711978.1:p.Asp992His
XM_006711916.2:c.3052G>C	XP_006711979.1:p.Asp1018His
XM_011532473.1:c.3052G>C	XP_011530775.1:p.Asp1018His
XM_011532474.1:c.3052G>C	XP_011530776.1:p.Asp1018His
XM_006711916.3:c.3052G>C	XP_006711979.1:p.Asp1018His
XM_017003117.1:c.2974G>C	XP_016858606.1:p.Asp992His
XR_002958896.1:n.3094G>C
NM_133259.4:c.3052G>C MANE Select	NP_573566.2:p.Asp1018His