Canonical Allele Identifier: CA346668639

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145513G>C (hg19) ; chr2:g.43918374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918374G>C , CM000664.2:g.43918374G>C	GRCh38
NC_000002.11:g.44145513G>C , CM000664.1:g.44145513G>C	GRCh37
NC_000002.10:g.43999017G>C	NCBI36
NG_008247.1:g.82632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.473C>G
ENST00000682295.1:c.185C>G	ENSP00000507499.1:p.Ala62Gly
ENST00000682303.1:c.*2707C>G	ENSP00000508325.1:n.*2707C>G
ENST00000682308.1:c.2921C>G	ENSP00000507056.1:p.Ala974Gly
ENST00000682480.1:c.2921C>G	ENSP00000508344.1:p.Ala974Gly
ENST00000682546.1:c.2918C>G	ENSP00000508188.1:p.Ala973Gly
ENST00000682585.1:c.2921C>G	ENSP00000506885.1:p.Ala974Gly
ENST00000682595.1:n.3505C>G
ENST00000682607.1:c.1339C>G
ENST00000682779.1:c.2912C>G	ENSP00000507947.1:p.Ala971Gly
ENST00000682845.1:n.2023C>G
ENST00000682885.1:c.2876C>G	ENSP00000508036.1:p.Ala959Gly
ENST00000682933.1:n.2995C>G
ENST00000683072.1:n.3505C>G
ENST00000683080.1:n.540C>G
ENST00000683125.1:c.3029C>G	ENSP00000507939.1:p.Ala1010Gly
ENST00000683213.1:c.2924C>G	ENSP00000507751.1:p.Ala975Gly
ENST00000683220.1:c.2951C>G	ENSP00000507151.1:p.Ala984Gly
ENST00000683236.1:c.251C>G	ENSP00000506891.1:n.251C>G
ENST00000683329.1:n.3724C>G
ENST00000683346.1:c.*2796C>G	ENSP00000507458.1:n.*2796C>G
ENST00000683409.1:n.1528C>G
ENST00000683459.1:n.3508C>G
ENST00000683590.1:c.2897-5816C>G	ENSP00000506820.1:n.2897-5816C>G
ENST00000683623.1:c.2828C>G	ENSP00000507702.1:p.Ala943Gly
ENST00000683645.1:n.3472C>G
ENST00000683796.1:c.*2793C>G	ENSP00000508221.1:n.*2793C>G
ENST00000683802.1:n.5846C>G
ENST00000683833.1:c.2912C>G	ENSP00000506852.1:p.Ala971Gly
ENST00000683994.1:c.2921C>G	ENSP00000507181.1:p.Ala974Gly
ENST00000684290.1:c.*457C>G	ENSP00000507243.1:n.*457C>G
ENST00000684306.1:c.*2834C>G	ENSP00000508384.1:n.*2834C>G
ENST00000684341.1:n.2941C>G
ENST00000684383.1:c.*2559C>G	ENSP00000506863.1:n.*2559C>G
ENST00000684619.1:c.*2793C>G	ENSP00000508088.1:n.*2793C>G
ENST00000684705.1:n.42C>G
ENST00000684743.1:n.3952C>G
ENST00000260665.12:c.2921C>G MANE Select	ENSP00000260665.7:p.Ala974Gly
ENST00000260665.11:c.2921C>G	ENSP00000260665.7:p.Ala974Gly
NM_133259.3:c.2921C>G	NP_573566.2:p.Ala974Gly
XM_006711915.2:c.2843C>G	XP_006711978.1:p.Ala948Gly
XM_006711916.2:c.2921C>G	XP_006711979.1:p.Ala974Gly
XM_011532473.1:c.2921C>G	XP_011530775.1:p.Ala974Gly
XM_011532474.1:c.2921C>G	XP_011530776.1:p.Ala974Gly
XM_006711916.3:c.2921C>G	XP_006711979.1:p.Ala974Gly
XM_017003117.1:c.2843C>G	XP_016858606.1:p.Ala948Gly
XR_002958896.1:n.2963C>G
NM_133259.4:c.2921C>G MANE Select	NP_573566.2:p.Ala974Gly