Canonical Allele Identifier: CA346674300

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43945401-A-C
• MyVariant Identifiers: chr2:g.44172540A>C (hg19) ; chr2:g.43945401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945401A>C , CM000664.2:g.43945401A>C	GRCh38
NC_000002.11:g.44172540A>C , CM000664.1:g.44172540A>C	GRCh37
NC_000002.10:g.44026044A>C	NCBI36
NG_008247.1:g.55605T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2227T>G	ENSP00000386562.2:p.Ser743Ala
ENST00000447246.2:c.2227T>G	ENSP00000403637.2:p.Ser743Ala
ENST00000681961.1:n.2247T>G
ENST00000682104.1:c.2101T>G	ENSP00000507716.1:p.Ser701Ala
ENST00000682303.1:c.*2082+712T>G	ENSP00000508325.1:n.*2082+712T>G
ENST00000682308.1:c.2227T>G	ENSP00000507056.1:p.Ser743Ala
ENST00000682480.1:c.2227T>G	ENSP00000508344.1:p.Ser743Ala
ENST00000682546.1:c.2224T>G	ENSP00000508188.1:p.Ser742Ala
ENST00000682585.1:c.2227T>G	ENSP00000506885.1:p.Ser743Ala
ENST00000682595.1:n.2809T>G
ENST00000682607.1:c.645T>G
ENST00000682779.1:c.2218T>G	ENSP00000507947.1:p.Ser740Ala
ENST00000682885.1:c.2182T>G	ENSP00000508036.1:p.Ser728Ala
ENST00000682933.1:n.2301T>G
ENST00000683072.1:n.2809T>G
ENST00000683125.1:c.2227T>G	ENSP00000507939.1:p.Ser743Ala
ENST00000683213.1:c.2230T>G	ENSP00000507751.1:p.Ser744Ala
ENST00000683220.1:c.2257T>G	ENSP00000507151.1:p.Ser753Ala
ENST00000683329.1:n.3030T>G
ENST00000683346.1:c.*2102T>G	ENSP00000507458.1:n.*2102T>G
ENST00000683459.1:n.2814T>G
ENST00000683590.1:c.2227T>G	ENSP00000506820.1:p.Ser743Ala
ENST00000683623.1:c.2227T>G	ENSP00000507702.1:p.Ser743Ala
ENST00000683645.1:n.2778T>G
ENST00000683694.1:n.978T>G
ENST00000683796.1:c.*2099T>G	ENSP00000508221.1:n.*2099T>G
ENST00000683802.1:n.5152T>G
ENST00000683833.1:c.2218T>G	ENSP00000506852.1:p.Ser740Ala
ENST00000683934.1:c.2113T>G
ENST00000683989.1:c.2227T>G	ENSP00000507510.1:p.Ser743Ala
ENST00000683994.1:c.2227T>G	ENSP00000507181.1:p.Ser743Ala
ENST00000684290.1:c.2210+712T>G	ENSP00000507243.1:n.2210+712T>G
ENST00000684306.1:c.*2140T>G	ENSP00000508384.1:n.*2140T>G
ENST00000684341.1:n.2247T>G
ENST00000684383.1:c.*1865T>G	ENSP00000506863.1:n.*1865T>G
ENST00000684619.1:c.*2099T>G	ENSP00000508088.1:n.*2099T>G
ENST00000684743.1:n.3258T>G
ENST00000260665.12:c.2227T>G MANE Select	ENSP00000260665.7:p.Ser743Ala
ENST00000260665.11:c.2227T>G	ENSP00000260665.7:p.Ser743Ala
NM_133259.3:c.2227T>G	NP_573566.2:p.Ser743Ala
XM_006711915.2:c.2149T>G	XP_006711978.1:p.Ser717Ala
XM_006711916.2:c.2227T>G	XP_006711979.1:p.Ser743Ala
XM_011532473.1:c.2227T>G	XP_011530775.1:p.Ser743Ala
XM_011532474.1:c.2227T>G	XP_011530776.1:p.Ser743Ala
XM_006711916.3:c.2227T>G	XP_006711979.1:p.Ser743Ala
XM_017003117.1:c.2149T>G	XP_016858606.1:p.Ser717Ala
XR_002958896.1:n.2269T>G
NM_133259.4:c.2227T>G MANE Select	NP_573566.2:p.Ser743Ala