Canonical Allele Identifier: CA346667846

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145164C>A (hg19) ; chr2:g.43918025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918025C>A , CM000664.2:g.43918025C>A	GRCh38
NC_000002.11:g.44145164C>A , CM000664.1:g.44145164C>A	GRCh37
NC_000002.10:g.43998668C>A	NCBI36
NG_008247.1:g.82981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700G>T
ENST00000682295.1:c.303+231G>T	ENSP00000507499.1:n.303+231G>T
ENST00000682303.1:c.*2934G>T	ENSP00000508325.1:n.*2934G>T
ENST00000682308.1:c.3148G>T	ENSP00000507056.1:p.Gly1050Trp
ENST00000682480.1:c.3166G>T	ENSP00000508344.1:p.Gly1056Trp
ENST00000682546.1:c.3145G>T	ENSP00000508188.1:p.Gly1049Trp
ENST00000682585.1:c.3148G>T	ENSP00000506885.1:p.Gly1050Trp
ENST00000682595.1:n.3732G>T
ENST00000682607.1:c.1566G>T
ENST00000682779.1:c.3139G>T	ENSP00000507947.1:p.Gly1047Trp
ENST00000682845.1:n.2250G>T
ENST00000682885.1:c.3103G>T	ENSP00000508036.1:p.Gly1035Trp
ENST00000682933.1:n.3222G>T
ENST00000683072.1:n.3732G>T
ENST00000683080.1:n.767G>T
ENST00000683125.1:c.3256G>T	ENSP00000507939.1:p.Gly1086Trp
ENST00000683213.1:c.3151G>T	ENSP00000507751.1:p.Gly1051Trp
ENST00000683220.1:c.3178G>T	ENSP00000507151.1:p.Gly1060Trp
ENST00000683329.1:n.3951G>T
ENST00000683346.1:c.*3023G>T	ENSP00000507458.1:n.*3023G>T
ENST00000683409.1:n.1755G>T
ENST00000683459.1:n.3735G>T
ENST00000683590.1:c.2897-5467G>T	ENSP00000506820.1:n.2897-5467G>T
ENST00000683623.1:c.3055G>T	ENSP00000507702.1:p.Gly1019Trp
ENST00000683645.1:n.3699G>T
ENST00000683796.1:c.*3020G>T	ENSP00000508221.1:n.*3020G>T
ENST00000683802.1:n.6073G>T
ENST00000683833.1:c.3139G>T	ENSP00000506852.1:p.Gly1047Trp
ENST00000683994.1:c.3148G>T	ENSP00000507181.1:p.Gly1050Trp
ENST00000684290.1:c.*684G>T	ENSP00000507243.1:n.*684G>T
ENST00000684306.1:c.*3061G>T	ENSP00000508384.1:n.*3061G>T
ENST00000684341.1:n.3168G>T
ENST00000684383.1:c.*2786G>T	ENSP00000506863.1:n.*2786G>T
ENST00000684619.1:c.*3020G>T	ENSP00000508088.1:n.*3020G>T
ENST00000684705.1:n.269G>T
ENST00000684743.1:n.4179G>T
ENST00000260665.12:c.3148G>T MANE Select	ENSP00000260665.7:p.Gly1050Trp
ENST00000260665.11:c.3148G>T	ENSP00000260665.7:p.Gly1050Trp
NM_133259.3:c.3148G>T	NP_573566.2:p.Gly1050Trp
XM_006711915.2:c.3070G>T	XP_006711978.1:p.Gly1024Trp
XM_006711916.2:c.3147+1G>T	XP_006711979.1:n.3147+1G>T
XM_011532473.1:c.3148G>T	XP_011530775.1:p.Gly1050Trp
XM_011532474.1:c.3148G>T	XP_011530776.1:p.Gly1050Trp
XM_006711916.3:c.3147+1G>T	XP_006711979.1:n.3147+1G>T
XM_017003117.1:c.3070G>T	XP_016858606.1:p.Gly1024Trp
XR_002958896.1:n.3190G>T
NM_133259.4:c.3148G>T MANE Select	NP_573566.2:p.Gly1050Trp