Canonical Allele Identifier: CA346676249

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948198-T-C
• MyVariant Identifiers: chr2:g.44175337T>C (hg19) ; chr2:g.43948198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948198T>C , CM000664.2:g.43948198T>C	GRCh38
NC_000002.11:g.44175337T>C , CM000664.1:g.44175337T>C	GRCh37
NC_000002.10:g.44028841T>C	NCBI36
NG_008247.1:g.52808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1844A>G	ENSP00000386562.2:p.Asn615Ser
ENST00000447246.2:c.1844A>G	ENSP00000403637.2:p.Asn615Ser
ENST00000467058.2:n.573A>G
ENST00000681959.1:n.1458A>G
ENST00000681961.1:n.1864A>G
ENST00000682104.1:c.1718A>G	ENSP00000507716.1:p.Asn573Ser
ENST00000682303.1:c.*1716A>G	ENSP00000508325.1:n.*1716A>G
ENST00000682308.1:c.1844A>G	ENSP00000507056.1:p.Asn615Ser
ENST00000682480.1:c.1844A>G	ENSP00000508344.1:p.Asn615Ser
ENST00000682546.1:c.1841A>G	ENSP00000508188.1:p.Asn614Ser
ENST00000682585.1:c.1844A>G	ENSP00000506885.1:p.Asn615Ser
ENST00000682595.1:n.2426A>G
ENST00000682607.1:c.262A>G
ENST00000682779.1:c.1835A>G	ENSP00000507947.1:p.Asn612Ser
ENST00000682885.1:c.1844A>G	ENSP00000508036.1:p.Asn615Ser
ENST00000682933.1:n.1918A>G
ENST00000683072.1:n.2426A>G
ENST00000683082.1:n.1862A>G
ENST00000683125.1:c.1844A>G	ENSP00000507939.1:p.Asn615Ser
ENST00000683213.1:c.1847A>G	ENSP00000507751.1:p.Asn616Ser
ENST00000683220.1:c.1874A>G	ENSP00000507151.1:p.Asn625Ser
ENST00000683329.1:n.2647A>G
ENST00000683346.1:c.*1719A>G	ENSP00000507458.1:n.*1719A>G
ENST00000683459.1:n.2431A>G
ENST00000683590.1:c.1844A>G	ENSP00000506820.1:p.Asn615Ser
ENST00000683623.1:c.1844A>G	ENSP00000507702.1:p.Asn615Ser
ENST00000683645.1:n.2395A>G
ENST00000683694.1:n.595A>G
ENST00000683796.1:c.*1716A>G	ENSP00000508221.1:n.*1716A>G
ENST00000683802.1:n.4769A>G
ENST00000683833.1:c.1835A>G	ENSP00000506852.1:p.Asn612Ser
ENST00000683934.1:c.1730A>G
ENST00000683989.1:c.1844A>G	ENSP00000507510.1:p.Asn615Ser
ENST00000683994.1:c.1844A>G	ENSP00000507181.1:p.Asn615Ser
ENST00000684290.1:c.1844A>G	ENSP00000507243.1:p.Asn615Ser
ENST00000684306.1:c.*1757A>G	ENSP00000508384.1:n.*1757A>G
ENST00000684341.1:n.1864A>G
ENST00000684383.1:c.*1482A>G	ENSP00000506863.1:n.*1482A>G
ENST00000684482.1:c.4313A>G
ENST00000684619.1:c.*1716A>G	ENSP00000508088.1:n.*1716A>G
ENST00000684743.1:n.2875A>G
ENST00000260665.12:c.1844A>G MANE Select	ENSP00000260665.7:p.Asn615Ser
ENST00000260665.11:c.1844A>G	ENSP00000260665.7:p.Asn615Ser
NM_133259.3:c.1844A>G	NP_573566.2:p.Asn615Ser
XM_006711915.2:c.1766A>G	XP_006711978.1:p.Asn589Ser
XM_006711916.2:c.1844A>G	XP_006711979.1:p.Asn615Ser
XM_011532473.1:c.1844A>G	XP_011530775.1:p.Asn615Ser
XM_011532474.1:c.1844A>G	XP_011530776.1:p.Asn615Ser
XM_006711916.3:c.1844A>G	XP_006711979.1:p.Asn615Ser
XM_017003117.1:c.1766A>G	XP_016858606.1:p.Asn589Ser
XR_002958896.1:n.1886A>G
NM_133259.4:c.1844A>G MANE Select	NP_573566.2:p.Asn615Ser