Canonical Allele Identifier: CA346668008

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145197T>G (hg19) ; chr2:g.43918058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918058T>G , CM000664.2:g.43918058T>G	GRCh38
NC_000002.11:g.44145197T>G , CM000664.1:g.44145197T>G	GRCh37
NC_000002.10:g.43998701T>G	NCBI36
NG_008247.1:g.82948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.667A>C
ENST00000682295.1:c.303+198A>C	ENSP00000507499.1:n.303+198A>C
ENST00000682303.1:c.*2901A>C	ENSP00000508325.1:n.*2901A>C
ENST00000682308.1:c.3115A>C	ENSP00000507056.1:p.Ile1039Leu
ENST00000682480.1:c.3133A>C	ENSP00000508344.1:p.Ile1045Leu
ENST00000682546.1:c.3112A>C	ENSP00000508188.1:p.Ile1038Leu
ENST00000682585.1:c.3115A>C	ENSP00000506885.1:p.Ile1039Leu
ENST00000682595.1:n.3699A>C
ENST00000682607.1:c.1533A>C
ENST00000682779.1:c.3106A>C	ENSP00000507947.1:p.Ile1036Leu
ENST00000682845.1:n.2217A>C
ENST00000682885.1:c.3070A>C	ENSP00000508036.1:p.Ile1024Leu
ENST00000682933.1:n.3189A>C
ENST00000683072.1:n.3699A>C
ENST00000683080.1:n.734A>C
ENST00000683125.1:c.3223A>C	ENSP00000507939.1:p.Ile1075Leu
ENST00000683213.1:c.3118A>C	ENSP00000507751.1:p.Ile1040Leu
ENST00000683220.1:c.3145A>C	ENSP00000507151.1:p.Ile1049Leu
ENST00000683329.1:n.3918A>C
ENST00000683346.1:c.*2990A>C	ENSP00000507458.1:n.*2990A>C
ENST00000683409.1:n.1722A>C
ENST00000683459.1:n.3702A>C
ENST00000683590.1:c.2897-5500A>C	ENSP00000506820.1:n.2897-5500A>C
ENST00000683623.1:c.3022A>C	ENSP00000507702.1:p.Ile1008Leu
ENST00000683645.1:n.3666A>C
ENST00000683796.1:c.*2987A>C	ENSP00000508221.1:n.*2987A>C
ENST00000683802.1:n.6040A>C
ENST00000683833.1:c.3106A>C	ENSP00000506852.1:p.Ile1036Leu
ENST00000683994.1:c.3115A>C	ENSP00000507181.1:p.Ile1039Leu
ENST00000684290.1:c.*651A>C	ENSP00000507243.1:n.*651A>C
ENST00000684306.1:c.*3028A>C	ENSP00000508384.1:n.*3028A>C
ENST00000684341.1:n.3135A>C
ENST00000684383.1:c.*2753A>C	ENSP00000506863.1:n.*2753A>C
ENST00000684619.1:c.*2987A>C	ENSP00000508088.1:n.*2987A>C
ENST00000684705.1:n.236A>C
ENST00000684743.1:n.4146A>C
ENST00000260665.12:c.3115A>C MANE Select	ENSP00000260665.7:p.Ile1039Leu
ENST00000260665.11:c.3115A>C	ENSP00000260665.7:p.Ile1039Leu
NM_133259.3:c.3115A>C	NP_573566.2:p.Ile1039Leu
XM_006711915.2:c.3037A>C	XP_006711978.1:p.Ile1013Leu
XM_006711916.2:c.3115A>C	XP_006711979.1:p.Ile1039Leu
XM_011532473.1:c.3115A>C	XP_011530775.1:p.Ile1039Leu
XM_011532474.1:c.3115A>C	XP_011530776.1:p.Ile1039Leu
XM_006711916.3:c.3115A>C	XP_006711979.1:p.Ile1039Leu
XM_017003117.1:c.3037A>C	XP_016858606.1:p.Ile1013Leu
XR_002958896.1:n.3157A>C
NM_133259.4:c.3115A>C MANE Select	NP_573566.2:p.Ile1039Leu