Canonical Allele Identifier: CA46458949

Gene: LRPPRC

Linked Data

• dbSNP Id: rs370993030
• gnomAD v4: 2-43943892-C-A
• MyVariant Identifiers: chr2:g.44171031C>A (hg19) ; chr2:g.43943892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943892C>A , CM000664.2:g.43943892C>A	GRCh38
NC_000002.11:g.44171031C>A , CM000664.1:g.44171031C>A	GRCh37
NC_000002.10:g.44024535C>A	NCBI36
NG_008247.1:g.57114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2299G>T	ENSP00000386562.2:p.Ala767Ser
ENST00000447246.2:c.2299G>T	ENSP00000403637.2:p.Ala767Ser
ENST00000681961.1:n.2319G>T
ENST00000682104.1:c.2173G>T	ENSP00000507716.1:p.Ala725Ser
ENST00000682303.1:c.*2085G>T	ENSP00000508325.1:n.*2085G>T
ENST00000682308.1:c.2299G>T	ENSP00000507056.1:p.Ala767Ser
ENST00000682480.1:c.2299G>T	ENSP00000508344.1:p.Ala767Ser
ENST00000682546.1:c.2296G>T	ENSP00000508188.1:p.Ala766Ser
ENST00000682585.1:c.2299G>T	ENSP00000506885.1:p.Ala767Ser
ENST00000682595.1:n.2881G>T
ENST00000682607.1:c.717G>T
ENST00000682779.1:c.2290G>T	ENSP00000507947.1:p.Ala764Ser
ENST00000682845.1:n.1401G>T
ENST00000682885.1:c.2254G>T	ENSP00000508036.1:p.Ala752Ser
ENST00000682933.1:n.2373G>T
ENST00000683072.1:n.2881G>T
ENST00000683125.1:c.2299G>T	ENSP00000507939.1:p.Ala767Ser
ENST00000683213.1:c.2302G>T	ENSP00000507751.1:p.Ala768Ser
ENST00000683220.1:c.2329G>T	ENSP00000507151.1:p.Ala777Ser
ENST00000683329.1:n.3102G>T
ENST00000683346.1:c.*2174G>T	ENSP00000507458.1:n.*2174G>T
ENST00000683459.1:n.2886G>T
ENST00000683590.1:c.2299G>T	ENSP00000506820.1:p.Ala767Ser
ENST00000683623.1:c.2297-91G>T	ENSP00000507702.1:n.2297-91G>T
ENST00000683645.1:n.2850G>T
ENST00000683694.1:n.1050G>T
ENST00000683796.1:c.*2171G>T	ENSP00000508221.1:n.*2171G>T
ENST00000683802.1:n.5224G>T
ENST00000683833.1:c.2290G>T	ENSP00000506852.1:p.Ala764Ser
ENST00000683989.1:c.2299G>T	ENSP00000507510.1:p.Ala767Ser
ENST00000683994.1:c.2299G>T	ENSP00000507181.1:p.Ala767Ser
ENST00000684290.1:c.2213G>T	ENSP00000507243.1:p.Cys738Phe
ENST00000684306.1:c.*2212G>T	ENSP00000508384.1:n.*2212G>T
ENST00000684341.1:n.2319G>T
ENST00000684383.1:c.*1937G>T	ENSP00000506863.1:n.*1937G>T
ENST00000684397.1:c.3G>T
ENST00000684619.1:c.*2171G>T	ENSP00000508088.1:n.*2171G>T
ENST00000684743.1:n.3330G>T
ENST00000260665.12:c.2299G>T MANE Select	ENSP00000260665.7:p.Ala767Ser
ENST00000260665.11:c.2299G>T	ENSP00000260665.7:p.Ala767Ser
NM_133259.3:c.2299G>T	NP_573566.2:p.Ala767Ser
XM_006711915.2:c.2221G>T	XP_006711978.1:p.Ala741Ser
XM_006711916.2:c.2299G>T	XP_006711979.1:p.Ala767Ser
XM_011532473.1:c.2299G>T	XP_011530775.1:p.Ala767Ser
XM_011532474.1:c.2299G>T	XP_011530776.1:p.Ala767Ser
XM_006711916.3:c.2299G>T	XP_006711979.1:p.Ala767Ser
XM_017003117.1:c.2221G>T	XP_016858606.1:p.Ala741Ser
XR_002958896.1:n.2341G>T
NM_133259.4:c.2299G>T MANE Select	NP_573566.2:p.Ala767Ser