Canonical Allele Identifier: CA346672750

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170910T>G (hg19) ; chr2:g.43943771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943771T>G , CM000664.2:g.43943771T>G	GRCh38
NC_000002.11:g.44170910T>G , CM000664.1:g.44170910T>G	GRCh37
NC_000002.10:g.44024414T>G	NCBI36
NG_008247.1:g.57235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2420A>C	ENSP00000386562.2:p.Gln807Pro
ENST00000447246.2:c.2420A>C	ENSP00000403637.2:p.Gln807Pro
ENST00000681961.1:n.2440A>C
ENST00000682104.1:c.2294A>C	ENSP00000507716.1:p.Gln765Pro
ENST00000682303.1:c.*2206A>C	ENSP00000508325.1:n.*2206A>C
ENST00000682308.1:c.2420A>C	ENSP00000507056.1:p.Gln807Pro
ENST00000682480.1:c.2420A>C	ENSP00000508344.1:p.Gln807Pro
ENST00000682546.1:c.2417A>C	ENSP00000508188.1:p.Gln806Pro
ENST00000682585.1:c.2420A>C	ENSP00000506885.1:p.Gln807Pro
ENST00000682595.1:n.3002A>C
ENST00000682607.1:c.838A>C
ENST00000682779.1:c.2411A>C	ENSP00000507947.1:p.Gln804Pro
ENST00000682845.1:n.1522A>C
ENST00000682885.1:c.2375A>C	ENSP00000508036.1:p.Gln792Pro
ENST00000682933.1:n.2494A>C
ENST00000683072.1:n.3002A>C
ENST00000683125.1:c.2420A>C	ENSP00000507939.1:p.Gln807Pro
ENST00000683213.1:c.2423A>C	ENSP00000507751.1:p.Gln808Pro
ENST00000683220.1:c.2450A>C	ENSP00000507151.1:p.Gln817Pro
ENST00000683329.1:n.3223A>C
ENST00000683346.1:c.*2295A>C	ENSP00000507458.1:n.*2295A>C
ENST00000683459.1:n.3007A>C
ENST00000683590.1:c.2420A>C	ENSP00000506820.1:p.Gln807Pro
ENST00000683623.1:c.2327A>C	ENSP00000507702.1:p.Gln776Pro
ENST00000683645.1:n.2971A>C
ENST00000683694.1:n.1171A>C
ENST00000683796.1:c.*2292A>C	ENSP00000508221.1:n.*2292A>C
ENST00000683802.1:n.5345A>C
ENST00000683833.1:c.2411A>C	ENSP00000506852.1:p.Gln804Pro
ENST00000683989.1:c.2420A>C	ENSP00000507510.1:p.Gln807Pro
ENST00000683994.1:c.2420A>C	ENSP00000507181.1:p.Gln807Pro
ENST00000684290.1:c.*114A>C	ENSP00000507243.1:n.*114A>C
ENST00000684306.1:c.*2333A>C	ENSP00000508384.1:n.*2333A>C
ENST00000684341.1:n.2440A>C
ENST00000684383.1:c.*2058A>C	ENSP00000506863.1:n.*2058A>C
ENST00000684397.1:c.124A>C
ENST00000684619.1:c.*2292A>C	ENSP00000508088.1:n.*2292A>C
ENST00000684743.1:n.3451A>C
ENST00000260665.12:c.2420A>C MANE Select	ENSP00000260665.7:p.Gln807Pro
ENST00000260665.11:c.2420A>C	ENSP00000260665.7:p.Gln807Pro
NM_133259.3:c.2420A>C	NP_573566.2:p.Gln807Pro
XM_006711915.2:c.2342A>C	XP_006711978.1:p.Gln781Pro
XM_006711916.2:c.2420A>C	XP_006711979.1:p.Gln807Pro
XM_011532473.1:c.2420A>C	XP_011530775.1:p.Gln807Pro
XM_011532474.1:c.2420A>C	XP_011530776.1:p.Gln807Pro
XM_006711916.3:c.2420A>C	XP_006711979.1:p.Gln807Pro
XM_017003117.1:c.2342A>C	XP_016858606.1:p.Gln781Pro
XR_002958896.1:n.2462A>C
NM_133259.4:c.2420A>C MANE Select	NP_573566.2:p.Gln807Pro