Canonical Allele Identifier: CA346672728

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170907A>G (hg19) ; chr2:g.43943768A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943768A>G , CM000664.2:g.43943768A>G	GRCh38
NC_000002.11:g.44170907A>G , CM000664.1:g.44170907A>G	GRCh37
NC_000002.10:g.44024411A>G	NCBI36
NG_008247.1:g.57238T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2423T>C	ENSP00000386562.2:p.Leu808Ser
ENST00000447246.2:c.2423T>C	ENSP00000403637.2:p.Leu808Ser
ENST00000681961.1:n.2443T>C
ENST00000682104.1:c.2297T>C	ENSP00000507716.1:p.Leu766Ser
ENST00000682303.1:c.*2209T>C	ENSP00000508325.1:n.*2209T>C
ENST00000682308.1:c.2423T>C	ENSP00000507056.1:p.Leu808Ser
ENST00000682480.1:c.2423T>C	ENSP00000508344.1:p.Leu808Ser
ENST00000682546.1:c.2420T>C	ENSP00000508188.1:p.Leu807Ser
ENST00000682585.1:c.2423T>C	ENSP00000506885.1:p.Leu808Ser
ENST00000682595.1:n.3005T>C
ENST00000682607.1:c.841T>C
ENST00000682779.1:c.2414T>C	ENSP00000507947.1:p.Leu805Ser
ENST00000682845.1:n.1525T>C
ENST00000682885.1:c.2378T>C	ENSP00000508036.1:p.Leu793Ser
ENST00000682933.1:n.2497T>C
ENST00000683072.1:n.3005T>C
ENST00000683125.1:c.2423T>C	ENSP00000507939.1:p.Leu808Ser
ENST00000683213.1:c.2426T>C	ENSP00000507751.1:p.Leu809Ser
ENST00000683220.1:c.2453T>C	ENSP00000507151.1:p.Leu818Ser
ENST00000683329.1:n.3226T>C
ENST00000683346.1:c.*2298T>C	ENSP00000507458.1:n.*2298T>C
ENST00000683459.1:n.3010T>C
ENST00000683590.1:c.2423T>C	ENSP00000506820.1:p.Leu808Ser
ENST00000683623.1:c.2330T>C	ENSP00000507702.1:p.Leu777Ser
ENST00000683645.1:n.2974T>C
ENST00000683694.1:n.1174T>C
ENST00000683796.1:c.*2295T>C	ENSP00000508221.1:n.*2295T>C
ENST00000683802.1:n.5348T>C
ENST00000683833.1:c.2414T>C	ENSP00000506852.1:p.Leu805Ser
ENST00000683989.1:c.2423T>C	ENSP00000507510.1:p.Leu808Ser
ENST00000683994.1:c.2423T>C	ENSP00000507181.1:p.Leu808Ser
ENST00000684290.1:c.*117T>C	ENSP00000507243.1:n.*117T>C
ENST00000684306.1:c.*2336T>C	ENSP00000508384.1:n.*2336T>C
ENST00000684341.1:n.2443T>C
ENST00000684383.1:c.*2061T>C	ENSP00000506863.1:n.*2061T>C
ENST00000684397.1:c.127T>C
ENST00000684619.1:c.*2295T>C	ENSP00000508088.1:n.*2295T>C
ENST00000684743.1:n.3454T>C
ENST00000260665.12:c.2423T>C MANE Select	ENSP00000260665.7:p.Leu808Ser
ENST00000260665.11:c.2423T>C	ENSP00000260665.7:p.Leu808Ser
NM_133259.3:c.2423T>C	NP_573566.2:p.Leu808Ser
XM_006711915.2:c.2345T>C	XP_006711978.1:p.Leu782Ser
XM_006711916.2:c.2423T>C	XP_006711979.1:p.Leu808Ser
XM_011532473.1:c.2423T>C	XP_011530775.1:p.Leu808Ser
XM_011532474.1:c.2423T>C	XP_011530776.1:p.Leu808Ser
XM_006711916.3:c.2423T>C	XP_006711979.1:p.Leu808Ser
XM_017003117.1:c.2345T>C	XP_016858606.1:p.Leu782Ser
XR_002958896.1:n.2465T>C
NM_133259.4:c.2423T>C MANE Select	NP_573566.2:p.Leu808Ser