Canonical Allele Identifier: CA346668503

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145449T>G (hg19) ; chr2:g.43918310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918310T>G , CM000664.2:g.43918310T>G	GRCh38
NC_000002.11:g.44145449T>G , CM000664.1:g.44145449T>G	GRCh37
NC_000002.10:g.43998953T>G	NCBI36
NG_008247.1:g.82696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.537A>C
ENST00000682295.1:c.249A>C	ENSP00000507499.1:p.Leu83Phe
ENST00000682303.1:c.*2771A>C	ENSP00000508325.1:n.*2771A>C
ENST00000682308.1:c.2985A>C	ENSP00000507056.1:p.Leu995Phe
ENST00000682480.1:c.2985A>C	ENSP00000508344.1:p.Leu995Phe
ENST00000682546.1:c.2982A>C	ENSP00000508188.1:p.Leu994Phe
ENST00000682585.1:c.2985A>C	ENSP00000506885.1:p.Leu995Phe
ENST00000682595.1:n.3569A>C
ENST00000682607.1:c.1403A>C
ENST00000682779.1:c.2976A>C	ENSP00000507947.1:p.Leu992Phe
ENST00000682845.1:n.2087A>C
ENST00000682885.1:c.2940A>C	ENSP00000508036.1:p.Leu980Phe
ENST00000682933.1:n.3059A>C
ENST00000683072.1:n.3569A>C
ENST00000683080.1:n.604A>C
ENST00000683125.1:c.3093A>C	ENSP00000507939.1:p.Leu1031Phe
ENST00000683213.1:c.2988A>C	ENSP00000507751.1:p.Leu996Phe
ENST00000683220.1:c.3015A>C	ENSP00000507151.1:p.Leu1005Phe
ENST00000683236.1:c.315A>C	ENSP00000506891.1:n.315A>C
ENST00000683329.1:n.3788A>C
ENST00000683346.1:c.*2860A>C	ENSP00000507458.1:n.*2860A>C
ENST00000683409.1:n.1592A>C
ENST00000683459.1:n.3572A>C
ENST00000683590.1:c.2897-5752A>C	ENSP00000506820.1:n.2897-5752A>C
ENST00000683623.1:c.2892A>C	ENSP00000507702.1:p.Leu964Phe
ENST00000683645.1:n.3536A>C
ENST00000683796.1:c.*2857A>C	ENSP00000508221.1:n.*2857A>C
ENST00000683802.1:n.5910A>C
ENST00000683833.1:c.2976A>C	ENSP00000506852.1:p.Leu992Phe
ENST00000683994.1:c.2985A>C	ENSP00000507181.1:p.Leu995Phe
ENST00000684290.1:c.*521A>C	ENSP00000507243.1:n.*521A>C
ENST00000684306.1:c.*2898A>C	ENSP00000508384.1:n.*2898A>C
ENST00000684341.1:n.3005A>C
ENST00000684383.1:c.*2623A>C	ENSP00000506863.1:n.*2623A>C
ENST00000684619.1:c.*2857A>C	ENSP00000508088.1:n.*2857A>C
ENST00000684705.1:n.106A>C
ENST00000684743.1:n.4016A>C
ENST00000260665.12:c.2985A>C MANE Select	ENSP00000260665.7:p.Leu995Phe
ENST00000260665.11:c.2985A>C	ENSP00000260665.7:p.Leu995Phe
NM_133259.3:c.2985A>C	NP_573566.2:p.Leu995Phe
XM_006711915.2:c.2907A>C	XP_006711978.1:p.Leu969Phe
XM_006711916.2:c.2985A>C	XP_006711979.1:p.Leu995Phe
XM_011532473.1:c.2985A>C	XP_011530775.1:p.Leu995Phe
XM_011532474.1:c.2985A>C	XP_011530776.1:p.Leu995Phe
XM_006711916.3:c.2985A>C	XP_006711979.1:p.Leu995Phe
XM_017003117.1:c.2907A>C	XP_016858606.1:p.Leu969Phe
XR_002958896.1:n.3027A>C
NM_133259.4:c.2985A>C MANE Select	NP_573566.2:p.Leu995Phe