Canonical Allele Identifier: CA346672758

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170911G>A (hg19) ; chr2:g.43943772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943772G>A , CM000664.2:g.43943772G>A	GRCh38
NC_000002.11:g.44170911G>A , CM000664.1:g.44170911G>A	GRCh37
NC_000002.10:g.44024415G>A	NCBI36
NG_008247.1:g.57234C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2419C>T	ENSP00000386562.2:p.Gln807Ter
ENST00000447246.2:c.2419C>T	ENSP00000403637.2:p.Gln807Ter
ENST00000681961.1:n.2439C>T
ENST00000682104.1:c.2293C>T	ENSP00000507716.1:p.Gln765Ter
ENST00000682303.1:c.*2205C>T	ENSP00000508325.1:n.*2205C>T
ENST00000682308.1:c.2419C>T	ENSP00000507056.1:p.Gln807Ter
ENST00000682480.1:c.2419C>T	ENSP00000508344.1:p.Gln807Ter
ENST00000682546.1:c.2416C>T	ENSP00000508188.1:p.Gln806Ter
ENST00000682585.1:c.2419C>T	ENSP00000506885.1:p.Gln807Ter
ENST00000682595.1:n.3001C>T
ENST00000682607.1:c.837C>T
ENST00000682779.1:c.2410C>T	ENSP00000507947.1:p.Gln804Ter
ENST00000682845.1:n.1521C>T
ENST00000682885.1:c.2374C>T	ENSP00000508036.1:p.Gln792Ter
ENST00000682933.1:n.2493C>T
ENST00000683072.1:n.3001C>T
ENST00000683125.1:c.2419C>T	ENSP00000507939.1:p.Gln807Ter
ENST00000683213.1:c.2422C>T	ENSP00000507751.1:p.Gln808Ter
ENST00000683220.1:c.2449C>T	ENSP00000507151.1:p.Gln817Ter
ENST00000683329.1:n.3222C>T
ENST00000683346.1:c.*2294C>T	ENSP00000507458.1:n.*2294C>T
ENST00000683459.1:n.3006C>T
ENST00000683590.1:c.2419C>T	ENSP00000506820.1:p.Gln807Ter
ENST00000683623.1:c.2326C>T	ENSP00000507702.1:p.Gln776Ter
ENST00000683645.1:n.2970C>T
ENST00000683694.1:n.1170C>T
ENST00000683796.1:c.*2291C>T	ENSP00000508221.1:n.*2291C>T
ENST00000683802.1:n.5344C>T
ENST00000683833.1:c.2410C>T	ENSP00000506852.1:p.Gln804Ter
ENST00000683989.1:c.2419C>T	ENSP00000507510.1:p.Gln807Ter
ENST00000683994.1:c.2419C>T	ENSP00000507181.1:p.Gln807Ter
ENST00000684290.1:c.*113C>T	ENSP00000507243.1:n.*113C>T
ENST00000684306.1:c.*2332C>T	ENSP00000508384.1:n.*2332C>T
ENST00000684341.1:n.2439C>T
ENST00000684383.1:c.*2057C>T	ENSP00000506863.1:n.*2057C>T
ENST00000684397.1:c.123C>T
ENST00000684619.1:c.*2291C>T	ENSP00000508088.1:n.*2291C>T
ENST00000684743.1:n.3450C>T
ENST00000260665.12:c.2419C>T MANE Select	ENSP00000260665.7:p.Gln807Ter
ENST00000260665.11:c.2419C>T	ENSP00000260665.7:p.Gln807Ter
NM_133259.3:c.2419C>T	NP_573566.2:p.Gln807Ter
XM_006711915.2:c.2341C>T	XP_006711978.1:p.Gln781Ter
XM_006711916.2:c.2419C>T	XP_006711979.1:p.Gln807Ter
XM_011532473.1:c.2419C>T	XP_011530775.1:p.Gln807Ter
XM_011532474.1:c.2419C>T	XP_011530776.1:p.Gln807Ter
XM_006711916.3:c.2419C>T	XP_006711979.1:p.Gln807Ter
XM_017003117.1:c.2341C>T	XP_016858606.1:p.Gln781Ter
XR_002958896.1:n.2461C>T
NM_133259.4:c.2419C>T MANE Select	NP_573566.2:p.Gln807Ter