Canonical Allele Identifier: CA346675946

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948124-T-C
• MyVariant Identifiers: chr2:g.44175263T>C (hg19) ; chr2:g.43948124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948124T>C , CM000664.2:g.43948124T>C	GRCh38
NC_000002.11:g.44175263T>C , CM000664.1:g.44175263T>C	GRCh37
NC_000002.10:g.44028767T>C	NCBI36
NG_008247.1:g.52882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1918A>G	ENSP00000386562.2:p.Lys640Glu
ENST00000447246.2:c.1918A>G	ENSP00000403637.2:p.Lys640Glu
ENST00000681959.1:n.1532A>G
ENST00000681961.1:n.1938A>G
ENST00000682104.1:c.1792A>G	ENSP00000507716.1:p.Lys598Glu
ENST00000682303.1:c.*1790A>G	ENSP00000508325.1:n.*1790A>G
ENST00000682308.1:c.1918A>G	ENSP00000507056.1:p.Lys640Glu
ENST00000682480.1:c.1918A>G	ENSP00000508344.1:p.Lys640Glu
ENST00000682546.1:c.1915A>G	ENSP00000508188.1:p.Lys639Glu
ENST00000682585.1:c.1918A>G	ENSP00000506885.1:p.Lys640Glu
ENST00000682595.1:n.2500A>G
ENST00000682607.1:c.336A>G
ENST00000682779.1:c.1909A>G	ENSP00000507947.1:p.Lys637Glu
ENST00000682885.1:c.1918A>G	ENSP00000508036.1:p.Lys640Glu
ENST00000682933.1:n.1992A>G
ENST00000683072.1:n.2500A>G
ENST00000683082.1:n.1936A>G
ENST00000683125.1:c.1918A>G	ENSP00000507939.1:p.Lys640Glu
ENST00000683213.1:c.1921A>G	ENSP00000507751.1:p.Lys641Glu
ENST00000683220.1:c.1948A>G	ENSP00000507151.1:p.Lys650Glu
ENST00000683329.1:n.2721A>G
ENST00000683346.1:c.*1793A>G	ENSP00000507458.1:n.*1793A>G
ENST00000683459.1:n.2505A>G
ENST00000683590.1:c.1918A>G	ENSP00000506820.1:p.Lys640Glu
ENST00000683623.1:c.1918A>G	ENSP00000507702.1:p.Lys640Glu
ENST00000683645.1:n.2469A>G
ENST00000683694.1:n.669A>G
ENST00000683796.1:c.*1790A>G	ENSP00000508221.1:n.*1790A>G
ENST00000683802.1:n.4843A>G
ENST00000683833.1:c.1909A>G	ENSP00000506852.1:p.Lys637Glu
ENST00000683934.1:c.1804A>G
ENST00000683989.1:c.1918A>G	ENSP00000507510.1:p.Lys640Glu
ENST00000683994.1:c.1918A>G	ENSP00000507181.1:p.Lys640Glu
ENST00000684290.1:c.1918A>G	ENSP00000507243.1:p.Lys640Glu
ENST00000684306.1:c.*1831A>G	ENSP00000508384.1:n.*1831A>G
ENST00000684341.1:n.1938A>G
ENST00000684383.1:c.*1556A>G	ENSP00000506863.1:n.*1556A>G
ENST00000684482.1:c.4387A>G
ENST00000684619.1:c.*1790A>G	ENSP00000508088.1:n.*1790A>G
ENST00000684743.1:n.2949A>G
ENST00000260665.12:c.1918A>G MANE Select	ENSP00000260665.7:p.Lys640Glu
ENST00000260665.11:c.1918A>G	ENSP00000260665.7:p.Lys640Glu
NM_133259.3:c.1918A>G	NP_573566.2:p.Lys640Glu
XM_006711915.2:c.1840A>G	XP_006711978.1:p.Lys614Glu
XM_006711916.2:c.1918A>G	XP_006711979.1:p.Lys640Glu
XM_011532473.1:c.1918A>G	XP_011530775.1:p.Lys640Glu
XM_011532474.1:c.1918A>G	XP_011530776.1:p.Lys640Glu
XM_006711916.3:c.1918A>G	XP_006711979.1:p.Lys640Glu
XM_017003117.1:c.1840A>G	XP_016858606.1:p.Lys614Glu
XR_002958896.1:n.1960A>G
NM_133259.4:c.1918A>G MANE Select	NP_573566.2:p.Lys640Glu