Canonical Allele Identifier: CA346674332

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44172549A>C (hg19) ; chr2:g.43945410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945410A>C , CM000664.2:g.43945410A>C	GRCh38
NC_000002.11:g.44172549A>C , CM000664.1:g.44172549A>C	GRCh37
NC_000002.10:g.44026053A>C	NCBI36
NG_008247.1:g.55596T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2218T>G	ENSP00000386562.2:p.Leu740Val
ENST00000447246.2:c.2218T>G	ENSP00000403637.2:p.Leu740Val
ENST00000681961.1:n.2238T>G
ENST00000682104.1:c.2092T>G	ENSP00000507716.1:p.Leu698Val
ENST00000682303.1:c.*2082+703T>G	ENSP00000508325.1:n.*2082+703T>G
ENST00000682308.1:c.2218T>G	ENSP00000507056.1:p.Leu740Val
ENST00000682480.1:c.2218T>G	ENSP00000508344.1:p.Leu740Val
ENST00000682546.1:c.2215T>G	ENSP00000508188.1:p.Leu739Val
ENST00000682585.1:c.2218T>G	ENSP00000506885.1:p.Leu740Val
ENST00000682595.1:n.2800T>G
ENST00000682607.1:c.636T>G
ENST00000682779.1:c.2209T>G	ENSP00000507947.1:p.Leu737Val
ENST00000682885.1:c.2173T>G	ENSP00000508036.1:p.Leu725Val
ENST00000682933.1:n.2292T>G
ENST00000683072.1:n.2800T>G
ENST00000683125.1:c.2218T>G	ENSP00000507939.1:p.Leu740Val
ENST00000683213.1:c.2221T>G	ENSP00000507751.1:p.Leu741Val
ENST00000683220.1:c.2248T>G	ENSP00000507151.1:p.Leu750Val
ENST00000683329.1:n.3021T>G
ENST00000683346.1:c.*2093T>G	ENSP00000507458.1:n.*2093T>G
ENST00000683459.1:n.2805T>G
ENST00000683590.1:c.2218T>G	ENSP00000506820.1:p.Leu740Val
ENST00000683623.1:c.2218T>G	ENSP00000507702.1:p.Leu740Val
ENST00000683645.1:n.2769T>G
ENST00000683694.1:n.969T>G
ENST00000683796.1:c.*2090T>G	ENSP00000508221.1:n.*2090T>G
ENST00000683802.1:n.5143T>G
ENST00000683833.1:c.2209T>G	ENSP00000506852.1:p.Leu737Val
ENST00000683934.1:c.2104T>G
ENST00000683989.1:c.2218T>G	ENSP00000507510.1:p.Leu740Val
ENST00000683994.1:c.2218T>G	ENSP00000507181.1:p.Leu740Val
ENST00000684290.1:c.2210+703T>G	ENSP00000507243.1:n.2210+703T>G
ENST00000684306.1:c.*2131T>G	ENSP00000508384.1:n.*2131T>G
ENST00000684341.1:n.2238T>G
ENST00000684383.1:c.*1856T>G	ENSP00000506863.1:n.*1856T>G
ENST00000684619.1:c.*2090T>G	ENSP00000508088.1:n.*2090T>G
ENST00000684743.1:n.3249T>G
ENST00000260665.12:c.2218T>G MANE Select	ENSP00000260665.7:p.Leu740Val
ENST00000260665.11:c.2218T>G	ENSP00000260665.7:p.Leu740Val
NM_133259.3:c.2218T>G	NP_573566.2:p.Leu740Val
XM_006711915.2:c.2140T>G	XP_006711978.1:p.Leu714Val
XM_006711916.2:c.2218T>G	XP_006711979.1:p.Leu740Val
XM_011532473.1:c.2218T>G	XP_011530775.1:p.Leu740Val
XM_011532474.1:c.2218T>G	XP_011530776.1:p.Leu740Val
XM_006711916.3:c.2218T>G	XP_006711979.1:p.Leu740Val
XM_017003117.1:c.2140T>G	XP_016858606.1:p.Leu714Val
XR_002958896.1:n.2260T>G
NM_133259.4:c.2218T>G MANE Select	NP_573566.2:p.Leu740Val