Canonical Allele Identifier: CA346674857

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121740A>C (hg19) ; chr2:g.43894601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894601A>C , CM000664.2:g.43894601A>C	GRCh38
NC_000002.11:g.44121740A>C , CM000664.1:g.44121740A>C	GRCh37
NC_000002.10:g.43975244A>C	NCBI36
NG_008247.1:g.106405T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.559T>G
ENST00000681993.1:n.1481T>G
ENST00000682154.1:n.1363T>G
ENST00000682303.1:c.*3640T>G	ENSP00000508325.1:n.*3640T>G
ENST00000682308.1:c.3854T>G	ENSP00000507056.1:p.Leu1285Trp
ENST00000682434.1:n.3484T>G
ENST00000682480.1:c.3947T>G	ENSP00000508344.1:p.Leu1316Trp
ENST00000682546.1:c.3926T>G	ENSP00000508188.1:p.Leu1309Trp
ENST00000682585.1:c.*57T>G	ENSP00000506885.1:n.*57T>G
ENST00000682607.1:c.2672T>G
ENST00000682612.1:c.752+2033T>G
ENST00000682696.1:c.29T>G	ENSP00000508411.1:p.Leu10Trp
ENST00000682779.1:c.3920T>G	ENSP00000507947.1:p.Leu1307Trp
ENST00000682885.1:c.3884T>G	ENSP00000508036.1:p.Leu1295Trp
ENST00000682933.1:n.4129T>G
ENST00000683002.1:c.781T>G
ENST00000683072.1:n.4513T>G
ENST00000683080.1:n.1548T>G
ENST00000683096.1:n.2370T>G
ENST00000683125.1:c.4037T>G	ENSP00000507939.1:p.Leu1346Trp
ENST00000683213.1:c.3932T>G	ENSP00000507751.1:p.Leu1311Trp
ENST00000683220.1:c.3959T>G	ENSP00000507151.1:p.Leu1320Trp
ENST00000683329.1:n.4732T>G
ENST00000683346.1:c.*3804T>G	ENSP00000507458.1:n.*3804T>G
ENST00000683409.1:n.2461T>G
ENST00000683459.1:n.4516T>G
ENST00000683590.1:c.3602T>G	ENSP00000506820.1:p.Leu1201Trp
ENST00000683623.1:c.3836T>G	ENSP00000507702.1:p.Leu1279Trp
ENST00000683796.1:c.*3726T>G	ENSP00000508221.1:n.*3726T>G
ENST00000683833.1:c.3845T>G	ENSP00000506852.1:p.Leu1282Trp
ENST00000683994.1:c.*42T>G	ENSP00000507181.1:n.*42T>G
ENST00000684290.1:c.*1390T>G	ENSP00000507243.1:n.*1390T>G
ENST00000684306.1:c.*3842T>G	ENSP00000508384.1:n.*3842T>G
ENST00000684383.1:c.*3567T>G	ENSP00000506863.1:n.*3567T>G
ENST00000684418.1:n.5110T>G
ENST00000684433.1:n.313T>G
ENST00000684454.1:n.7793T>G
ENST00000684619.1:c.*3801T>G	ENSP00000508088.1:n.*3801T>G
ENST00000684743.1:n.6674T>G
ENST00000260665.12:c.3929T>G MANE Select	ENSP00000260665.7:p.Leu1310Trp
ENST00000260665.11:c.3929T>G	ENSP00000260665.7:p.Leu1310Trp
ENST00000419884.5:c.170T>G	ENSP00000414207.1:p.Leu57Trp
ENST00000463456.5:n.2972T>G
NM_133259.3:c.3929T>G	NP_573566.2:p.Leu1310Trp
XM_006711915.2:c.3851T>G	XP_006711978.1:p.Leu1284Trp
XM_011532473.1:c.3854T>G	XP_011530775.1:p.Leu1285Trp
XM_011532474.1:c.3929T>G	XP_011530776.1:p.Leu1310Trp
XM_017003117.1:c.3776T>G	XP_016858606.1:p.Leu1259Trp
XR_002958896.1:n.3971T>G
NM_133259.4:c.3929T>G MANE Select	NP_573566.2:p.Leu1310Trp