Canonical Allele Identifier: CA346668637

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145511C>G (hg19) ; chr2:g.43918372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918372C>G , CM000664.2:g.43918372C>G	GRCh38
NC_000002.11:g.44145511C>G , CM000664.1:g.44145511C>G	GRCh37
NC_000002.10:g.43999015C>G	NCBI36
NG_008247.1:g.82634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.475G>C
ENST00000682295.1:c.187G>C	ENSP00000507499.1:p.Asp63His
ENST00000682303.1:c.*2709G>C	ENSP00000508325.1:n.*2709G>C
ENST00000682308.1:c.2923G>C	ENSP00000507056.1:p.Asp975His
ENST00000682480.1:c.2923G>C	ENSP00000508344.1:p.Asp975His
ENST00000682546.1:c.2920G>C	ENSP00000508188.1:p.Asp974His
ENST00000682585.1:c.2923G>C	ENSP00000506885.1:p.Asp975His
ENST00000682595.1:n.3507G>C
ENST00000682607.1:c.1341G>C
ENST00000682779.1:c.2914G>C	ENSP00000507947.1:p.Asp972His
ENST00000682845.1:n.2025G>C
ENST00000682885.1:c.2878G>C	ENSP00000508036.1:p.Asp960His
ENST00000682933.1:n.2997G>C
ENST00000683072.1:n.3507G>C
ENST00000683080.1:n.542G>C
ENST00000683125.1:c.3031G>C	ENSP00000507939.1:p.Asp1011His
ENST00000683213.1:c.2926G>C	ENSP00000507751.1:p.Asp976His
ENST00000683220.1:c.2953G>C	ENSP00000507151.1:p.Asp985His
ENST00000683236.1:c.253G>C	ENSP00000506891.1:n.253G>C
ENST00000683329.1:n.3726G>C
ENST00000683346.1:c.*2798G>C	ENSP00000507458.1:n.*2798G>C
ENST00000683409.1:n.1530G>C
ENST00000683459.1:n.3510G>C
ENST00000683590.1:c.2897-5814G>C	ENSP00000506820.1:n.2897-5814G>C
ENST00000683623.1:c.2830G>C	ENSP00000507702.1:p.Asp944His
ENST00000683645.1:n.3474G>C
ENST00000683796.1:c.*2795G>C	ENSP00000508221.1:n.*2795G>C
ENST00000683802.1:n.5848G>C
ENST00000683833.1:c.2914G>C	ENSP00000506852.1:p.Asp972His
ENST00000683994.1:c.2923G>C	ENSP00000507181.1:p.Asp975His
ENST00000684290.1:c.*459G>C	ENSP00000507243.1:n.*459G>C
ENST00000684306.1:c.*2836G>C	ENSP00000508384.1:n.*2836G>C
ENST00000684341.1:n.2943G>C
ENST00000684383.1:c.*2561G>C	ENSP00000506863.1:n.*2561G>C
ENST00000684619.1:c.*2795G>C	ENSP00000508088.1:n.*2795G>C
ENST00000684705.1:n.44G>C
ENST00000684743.1:n.3954G>C
ENST00000260665.12:c.2923G>C MANE Select	ENSP00000260665.7:p.Asp975His
ENST00000260665.11:c.2923G>C	ENSP00000260665.7:p.Asp975His
NM_133259.3:c.2923G>C	NP_573566.2:p.Asp975His
XM_006711915.2:c.2845G>C	XP_006711978.1:p.Asp949His
XM_006711916.2:c.2923G>C	XP_006711979.1:p.Asp975His
XM_011532473.1:c.2923G>C	XP_011530775.1:p.Asp975His
XM_011532474.1:c.2923G>C	XP_011530776.1:p.Asp975His
XM_006711916.3:c.2923G>C	XP_006711979.1:p.Asp975His
XM_017003117.1:c.2845G>C	XP_016858606.1:p.Asp949His
XR_002958896.1:n.2965G>C
NM_133259.4:c.2923G>C MANE Select	NP_573566.2:p.Asp975His