Canonical Allele Identifier: CA346674966

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121768C>A (hg19) ; chr2:g.43894629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894629C>A , CM000664.2:g.43894629C>A	GRCh38
NC_000002.11:g.44121768C>A , CM000664.1:g.44121768C>A	GRCh37
NC_000002.10:g.43975272C>A	NCBI36
NG_008247.1:g.106377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.531G>T
ENST00000681993.1:n.1453G>T
ENST00000682154.1:n.1335G>T
ENST00000682303.1:c.*3612G>T	ENSP00000508325.1:n.*3612G>T
ENST00000682308.1:c.3826G>T	ENSP00000507056.1:p.Ala1276Ser
ENST00000682434.1:n.3456G>T
ENST00000682480.1:c.3919G>T	ENSP00000508344.1:p.Ala1307Ser
ENST00000682546.1:c.3898G>T	ENSP00000508188.1:p.Ala1300Ser
ENST00000682585.1:c.*29G>T	ENSP00000506885.1:n.*29G>T
ENST00000682607.1:c.2644G>T
ENST00000682612.1:c.752+2005G>T
ENST00000682696.1:c.1G>T	ENSP00000508411.1:p.Ala1Ser
ENST00000682779.1:c.3892G>T	ENSP00000507947.1:p.Ala1298Ser
ENST00000682885.1:c.3856G>T	ENSP00000508036.1:p.Ala1286Ser
ENST00000682933.1:n.4101G>T
ENST00000683002.1:c.753G>T
ENST00000683072.1:n.4485G>T
ENST00000683080.1:n.1520G>T
ENST00000683096.1:n.2342G>T
ENST00000683125.1:c.4009G>T	ENSP00000507939.1:p.Ala1337Ser
ENST00000683213.1:c.3904G>T	ENSP00000507751.1:p.Ala1302Ser
ENST00000683220.1:c.3931G>T	ENSP00000507151.1:p.Ala1311Ser
ENST00000683329.1:n.4704G>T
ENST00000683346.1:c.*3776G>T	ENSP00000507458.1:n.*3776G>T
ENST00000683409.1:n.2433G>T
ENST00000683459.1:n.4488G>T
ENST00000683590.1:c.3574G>T	ENSP00000506820.1:p.Ala1192Ser
ENST00000683623.1:c.3808G>T	ENSP00000507702.1:p.Ala1270Ser
ENST00000683796.1:c.*3698G>T	ENSP00000508221.1:n.*3698G>T
ENST00000683833.1:c.3817G>T	ENSP00000506852.1:p.Ala1273Ser
ENST00000683994.1:c.*14G>T	ENSP00000507181.1:n.*14G>T
ENST00000684290.1:c.*1362G>T	ENSP00000507243.1:n.*1362G>T
ENST00000684306.1:c.*3814G>T	ENSP00000508384.1:n.*3814G>T
ENST00000684383.1:c.*3539G>T	ENSP00000506863.1:n.*3539G>T
ENST00000684418.1:n.5082G>T
ENST00000684433.1:n.285G>T
ENST00000684454.1:n.7765G>T
ENST00000684619.1:c.*3773G>T	ENSP00000508088.1:n.*3773G>T
ENST00000684743.1:n.6646G>T
ENST00000260665.12:c.3901G>T MANE Select	ENSP00000260665.7:p.Ala1301Ser
ENST00000260665.11:c.3901G>T	ENSP00000260665.7:p.Ala1301Ser
ENST00000419884.5:c.142G>T	ENSP00000414207.1:p.Ala48Ser
ENST00000463456.5:n.2944G>T
NM_133259.3:c.3901G>T	NP_573566.2:p.Ala1301Ser
XM_006711915.2:c.3823G>T	XP_006711978.1:p.Ala1275Ser
XM_011532473.1:c.3826G>T	XP_011530775.1:p.Ala1276Ser
XM_011532474.1:c.3901G>T	XP_011530776.1:p.Ala1301Ser
XM_017003117.1:c.3748G>T	XP_016858606.1:p.Ala1250Ser
XR_002958896.1:n.3943G>T
NM_133259.4:c.3901G>T MANE Select	NP_573566.2:p.Ala1301Ser