Canonical Allele Identifier: CA346675961

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44175267C>A (hg19) ; chr2:g.43948128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948128C>A , CM000664.2:g.43948128C>A	GRCh38
NC_000002.11:g.44175267C>A , CM000664.1:g.44175267C>A	GRCh37
NC_000002.10:g.44028771C>A	NCBI36
NG_008247.1:g.52878G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.1914G>T	ENSP00000386562.2:p.Leu638Phe
ENST00000447246.2:c.1914G>T	ENSP00000403637.2:p.Leu638Phe
ENST00000681959.1:n.1528G>T
ENST00000681961.1:n.1934G>T
ENST00000682104.1:c.1788G>T	ENSP00000507716.1:p.Leu596Phe
ENST00000682303.1:c.*1786G>T	ENSP00000508325.1:n.*1786G>T
ENST00000682308.1:c.1914G>T	ENSP00000507056.1:p.Leu638Phe
ENST00000682480.1:c.1914G>T	ENSP00000508344.1:p.Leu638Phe
ENST00000682546.1:c.1911G>T	ENSP00000508188.1:p.Leu637Phe
ENST00000682585.1:c.1914G>T	ENSP00000506885.1:p.Leu638Phe
ENST00000682595.1:n.2496G>T
ENST00000682607.1:c.332G>T
ENST00000682779.1:c.1905G>T	ENSP00000507947.1:p.Leu635Phe
ENST00000682885.1:c.1914G>T	ENSP00000508036.1:p.Leu638Phe
ENST00000682933.1:n.1988G>T
ENST00000683072.1:n.2496G>T
ENST00000683082.1:n.1932G>T
ENST00000683125.1:c.1914G>T	ENSP00000507939.1:p.Leu638Phe
ENST00000683213.1:c.1917G>T	ENSP00000507751.1:p.Leu639Phe
ENST00000683220.1:c.1944G>T	ENSP00000507151.1:p.Leu648Phe
ENST00000683329.1:n.2717G>T
ENST00000683346.1:c.*1789G>T	ENSP00000507458.1:n.*1789G>T
ENST00000683459.1:n.2501G>T
ENST00000683590.1:c.1914G>T	ENSP00000506820.1:p.Leu638Phe
ENST00000683623.1:c.1914G>T	ENSP00000507702.1:p.Leu638Phe
ENST00000683645.1:n.2465G>T
ENST00000683694.1:n.665G>T
ENST00000683796.1:c.*1786G>T	ENSP00000508221.1:n.*1786G>T
ENST00000683802.1:n.4839G>T
ENST00000683833.1:c.1905G>T	ENSP00000506852.1:p.Leu635Phe
ENST00000683934.1:c.1800G>T
ENST00000683989.1:c.1914G>T	ENSP00000507510.1:p.Leu638Phe
ENST00000683994.1:c.1914G>T	ENSP00000507181.1:p.Leu638Phe
ENST00000684290.1:c.1914G>T	ENSP00000507243.1:p.Leu638Phe
ENST00000684306.1:c.*1827G>T	ENSP00000508384.1:n.*1827G>T
ENST00000684341.1:n.1934G>T
ENST00000684383.1:c.*1552G>T	ENSP00000506863.1:n.*1552G>T
ENST00000684482.1:c.4383G>T
ENST00000684619.1:c.*1786G>T	ENSP00000508088.1:n.*1786G>T
ENST00000684743.1:n.2945G>T
ENST00000260665.12:c.1914G>T MANE Select	ENSP00000260665.7:p.Leu638Phe
ENST00000260665.11:c.1914G>T	ENSP00000260665.7:p.Leu638Phe
NM_133259.3:c.1914G>T	NP_573566.2:p.Leu638Phe
XM_006711915.2:c.1836G>T	XP_006711978.1:p.Leu612Phe
XM_006711916.2:c.1914G>T	XP_006711979.1:p.Leu638Phe
XM_011532473.1:c.1914G>T	XP_011530775.1:p.Leu638Phe
XM_011532474.1:c.1914G>T	XP_011530776.1:p.Leu638Phe
XM_006711916.3:c.1914G>T	XP_006711979.1:p.Leu638Phe
XM_017003117.1:c.1836G>T	XP_016858606.1:p.Leu612Phe
XR_002958896.1:n.1956G>T
NM_133259.4:c.1914G>T MANE Select	NP_573566.2:p.Leu638Phe