Canonical Allele Identifier: CA346664848

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132836A>G (hg19) ; chr2:g.43905697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905697A>G , CM000664.2:g.43905697A>G	GRCh38
NC_000002.11:g.44132836A>G , CM000664.1:g.44132836A>G	GRCh37
NC_000002.10:g.43986340A>G	NCBI36
NG_008247.1:g.95309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.438T>C
ENST00000681993.1:n.911T>C
ENST00000682295.1:c.514T>C	ENSP00000507499.1:n.514T>C
ENST00000682303.1:c.*3145T>C	ENSP00000508325.1:n.*3145T>C
ENST00000682308.1:c.3359T>C	ENSP00000507056.1:p.Leu1120Ser
ENST00000682480.1:c.3377T>C	ENSP00000508344.1:p.Leu1126Ser
ENST00000682546.1:c.3356T>C	ENSP00000508188.1:p.Leu1119Ser
ENST00000682585.1:c.3359T>C	ENSP00000506885.1:p.Leu1120Ser
ENST00000682595.1:n.3943T>C
ENST00000682607.1:c.1777T>C
ENST00000682612.1:c.211T>C
ENST00000682779.1:c.3350T>C	ENSP00000507947.1:p.Leu1117Ser
ENST00000682845.1:n.2461T>C
ENST00000682885.1:c.3314T>C	ENSP00000508036.1:p.Leu1105Ser
ENST00000682933.1:n.3433T>C
ENST00000683002.1:c.211T>C
ENST00000683072.1:n.3943T>C
ENST00000683080.1:n.978T>C
ENST00000683125.1:c.3467T>C	ENSP00000507939.1:p.Leu1156Ser
ENST00000683213.1:c.3362T>C	ENSP00000507751.1:p.Leu1121Ser
ENST00000683220.1:c.3389T>C	ENSP00000507151.1:p.Leu1130Ser
ENST00000683329.1:n.4162T>C
ENST00000683346.1:c.*3234T>C	ENSP00000507458.1:n.*3234T>C
ENST00000683409.1:n.1966T>C
ENST00000683459.1:n.3946T>C
ENST00000683528.1:c.211T>C
ENST00000683590.1:c.3107T>C	ENSP00000506820.1:p.Leu1036Ser
ENST00000683623.1:c.3266T>C	ENSP00000507702.1:p.Leu1089Ser
ENST00000683645.1:n.3910T>C
ENST00000683796.1:c.*3231T>C	ENSP00000508221.1:n.*3231T>C
ENST00000683802.1:n.6284T>C
ENST00000683833.1:c.3350T>C	ENSP00000506852.1:p.Leu1117Ser
ENST00000683994.1:c.3359T>C	ENSP00000507181.1:p.Leu1120Ser
ENST00000684290.1:c.*895T>C	ENSP00000507243.1:n.*895T>C
ENST00000684306.1:c.*3272T>C	ENSP00000508384.1:n.*3272T>C
ENST00000684341.1:n.3379T>C
ENST00000684383.1:c.*2997T>C	ENSP00000506863.1:n.*2997T>C
ENST00000684418.1:n.4540T>C
ENST00000684454.1:n.2709T>C
ENST00000684619.1:c.*3231T>C	ENSP00000508088.1:n.*3231T>C
ENST00000684743.1:n.4390T>C
ENST00000260665.12:c.3359T>C MANE Select	ENSP00000260665.7:p.Leu1120Ser
ENST00000260665.11:c.3359T>C	ENSP00000260665.7:p.Leu1120Ser
NM_133259.3:c.3359T>C	NP_573566.2:p.Leu1120Ser
XM_006711915.2:c.3281T>C	XP_006711978.1:p.Leu1094Ser
XM_011532473.1:c.3359T>C	XP_011530775.1:p.Leu1120Ser
XM_011532474.1:c.3359T>C	XP_011530776.1:p.Leu1120Ser
XM_017003117.1:c.3281T>C	XP_016858606.1:p.Leu1094Ser
XR_002958896.1:n.3401T>C
NM_133259.4:c.3359T>C MANE Select	NP_573566.2:p.Leu1120Ser