Canonical Allele Identifier: CA346674340

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44172552G>C (hg19) ; chr2:g.43945413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945413G>C , CM000664.2:g.43945413G>C	GRCh38
NC_000002.11:g.44172552G>C , CM000664.1:g.44172552G>C	GRCh37
NC_000002.10:g.44026056G>C	NCBI36
NG_008247.1:g.55593C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2215C>G	ENSP00000386562.2:p.Arg739Gly
ENST00000447246.2:c.2215C>G	ENSP00000403637.2:p.Arg739Gly
ENST00000681961.1:n.2235C>G
ENST00000682104.1:c.2089C>G	ENSP00000507716.1:p.Arg697Gly
ENST00000682303.1:c.*2082+700C>G	ENSP00000508325.1:n.*2082+700C>G
ENST00000682308.1:c.2215C>G	ENSP00000507056.1:p.Arg739Gly
ENST00000682480.1:c.2215C>G	ENSP00000508344.1:p.Arg739Gly
ENST00000682546.1:c.2212C>G	ENSP00000508188.1:p.Arg738Gly
ENST00000682585.1:c.2215C>G	ENSP00000506885.1:p.Arg739Gly
ENST00000682595.1:n.2797C>G
ENST00000682607.1:c.633C>G
ENST00000682779.1:c.2206C>G	ENSP00000507947.1:p.Arg736Gly
ENST00000682885.1:c.2170C>G	ENSP00000508036.1:p.Arg724Gly
ENST00000682933.1:n.2289C>G
ENST00000683072.1:n.2797C>G
ENST00000683125.1:c.2215C>G	ENSP00000507939.1:p.Arg739Gly
ENST00000683213.1:c.2218C>G	ENSP00000507751.1:p.Arg740Gly
ENST00000683220.1:c.2245C>G	ENSP00000507151.1:p.Arg749Gly
ENST00000683329.1:n.3018C>G
ENST00000683346.1:c.*2090C>G	ENSP00000507458.1:n.*2090C>G
ENST00000683459.1:n.2802C>G
ENST00000683590.1:c.2215C>G	ENSP00000506820.1:p.Arg739Gly
ENST00000683623.1:c.2215C>G	ENSP00000507702.1:p.Arg739Gly
ENST00000683645.1:n.2766C>G
ENST00000683694.1:n.966C>G
ENST00000683796.1:c.*2087C>G	ENSP00000508221.1:n.*2087C>G
ENST00000683802.1:n.5140C>G
ENST00000683833.1:c.2206C>G	ENSP00000506852.1:p.Arg736Gly
ENST00000683934.1:c.2101C>G
ENST00000683989.1:c.2215C>G	ENSP00000507510.1:p.Arg739Gly
ENST00000683994.1:c.2215C>G	ENSP00000507181.1:p.Arg739Gly
ENST00000684290.1:c.2210+700C>G	ENSP00000507243.1:n.2210+700C>G
ENST00000684306.1:c.*2128C>G	ENSP00000508384.1:n.*2128C>G
ENST00000684341.1:n.2235C>G
ENST00000684383.1:c.*1853C>G	ENSP00000506863.1:n.*1853C>G
ENST00000684619.1:c.*2087C>G	ENSP00000508088.1:n.*2087C>G
ENST00000684743.1:n.3246C>G
ENST00000260665.12:c.2215C>G MANE Select	ENSP00000260665.7:p.Arg739Gly
ENST00000260665.11:c.2215C>G	ENSP00000260665.7:p.Arg739Gly
NM_133259.3:c.2215C>G	NP_573566.2:p.Arg739Gly
XM_006711915.2:c.2137C>G	XP_006711978.1:p.Arg713Gly
XM_006711916.2:c.2215C>G	XP_006711979.1:p.Arg739Gly
XM_011532473.1:c.2215C>G	XP_011530775.1:p.Arg739Gly
XM_011532474.1:c.2215C>G	XP_011530776.1:p.Arg739Gly
XM_006711916.3:c.2215C>G	XP_006711979.1:p.Arg739Gly
XM_017003117.1:c.2137C>G	XP_016858606.1:p.Arg713Gly
XR_002958896.1:n.2257C>G
NM_133259.4:c.2215C>G MANE Select	NP_573566.2:p.Arg739Gly