Canonical Allele Identifier: CA346673485

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44171027A>C (hg19) ; chr2:g.43943888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943888A>C , CM000664.2:g.43943888A>C	GRCh38
NC_000002.11:g.44171027A>C , CM000664.1:g.44171027A>C	GRCh37
NC_000002.10:g.44024531A>C	NCBI36
NG_008247.1:g.57118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2303T>G	ENSP00000386562.2:p.Ile768Ser
ENST00000447246.2:c.2303T>G	ENSP00000403637.2:p.Ile768Ser
ENST00000681961.1:n.2323T>G
ENST00000682104.1:c.2177T>G	ENSP00000507716.1:p.Ile726Ser
ENST00000682303.1:c.*2089T>G	ENSP00000508325.1:n.*2089T>G
ENST00000682308.1:c.2303T>G	ENSP00000507056.1:p.Ile768Ser
ENST00000682480.1:c.2303T>G	ENSP00000508344.1:p.Ile768Ser
ENST00000682546.1:c.2300T>G	ENSP00000508188.1:p.Ile767Ser
ENST00000682585.1:c.2303T>G	ENSP00000506885.1:p.Ile768Ser
ENST00000682595.1:n.2885T>G
ENST00000682607.1:c.721T>G
ENST00000682779.1:c.2294T>G	ENSP00000507947.1:p.Ile765Ser
ENST00000682845.1:n.1405T>G
ENST00000682885.1:c.2258T>G	ENSP00000508036.1:p.Ile753Ser
ENST00000682933.1:n.2377T>G
ENST00000683072.1:n.2885T>G
ENST00000683125.1:c.2303T>G	ENSP00000507939.1:p.Ile768Ser
ENST00000683213.1:c.2306T>G	ENSP00000507751.1:p.Ile769Ser
ENST00000683220.1:c.2333T>G	ENSP00000507151.1:p.Ile778Ser
ENST00000683329.1:n.3106T>G
ENST00000683346.1:c.*2178T>G	ENSP00000507458.1:n.*2178T>G
ENST00000683459.1:n.2890T>G
ENST00000683590.1:c.2303T>G	ENSP00000506820.1:p.Ile768Ser
ENST00000683623.1:c.2297-87T>G	ENSP00000507702.1:n.2297-87T>G
ENST00000683645.1:n.2854T>G
ENST00000683694.1:n.1054T>G
ENST00000683796.1:c.*2175T>G	ENSP00000508221.1:n.*2175T>G
ENST00000683802.1:n.5228T>G
ENST00000683833.1:c.2294T>G	ENSP00000506852.1:p.Ile765Ser
ENST00000683989.1:c.2303T>G	ENSP00000507510.1:p.Ile768Ser
ENST00000683994.1:c.2303T>G	ENSP00000507181.1:p.Ile768Ser
ENST00000684290.1:c.2217T>G	ENSP00000507243.1:p.Tyr739Ter
ENST00000684306.1:c.*2216T>G	ENSP00000508384.1:n.*2216T>G
ENST00000684341.1:n.2323T>G
ENST00000684383.1:c.*1941T>G	ENSP00000506863.1:n.*1941T>G
ENST00000684397.1:c.7T>G
ENST00000684619.1:c.*2175T>G	ENSP00000508088.1:n.*2175T>G
ENST00000684743.1:n.3334T>G
ENST00000260665.12:c.2303T>G MANE Select	ENSP00000260665.7:p.Ile768Ser
ENST00000260665.11:c.2303T>G	ENSP00000260665.7:p.Ile768Ser
NM_133259.3:c.2303T>G	NP_573566.2:p.Ile768Ser
XM_006711915.2:c.2225T>G	XP_006711978.1:p.Ile742Ser
XM_006711916.2:c.2303T>G	XP_006711979.1:p.Ile768Ser
XM_011532473.1:c.2303T>G	XP_011530775.1:p.Ile768Ser
XM_011532474.1:c.2303T>G	XP_011530776.1:p.Ile768Ser
XM_006711916.3:c.2303T>G	XP_006711979.1:p.Ile768Ser
XM_017003117.1:c.2225T>G	XP_016858606.1:p.Ile742Ser
XR_002958896.1:n.2345T>G
NM_133259.4:c.2303T>G MANE Select	NP_573566.2:p.Ile768Ser