Canonical Allele Identifier: CA346675966

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948129-A-G
• MyVariant Identifiers: chr2:g.44175268A>G (hg19) ; chr2:g.43948129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948129A>G , CM000664.2:g.43948129A>G	GRCh38
NC_000002.11:g.44175268A>G , CM000664.1:g.44175268A>G	GRCh37
NC_000002.10:g.44028772A>G	NCBI36
NG_008247.1:g.52877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1913T>C	ENSP00000386562.2:p.Leu638Ser
ENST00000447246.2:c.1913T>C	ENSP00000403637.2:p.Leu638Ser
ENST00000681959.1:n.1527T>C
ENST00000681961.1:n.1933T>C
ENST00000682104.1:c.1787T>C	ENSP00000507716.1:p.Leu596Ser
ENST00000682303.1:c.*1785T>C	ENSP00000508325.1:n.*1785T>C
ENST00000682308.1:c.1913T>C	ENSP00000507056.1:p.Leu638Ser
ENST00000682480.1:c.1913T>C	ENSP00000508344.1:p.Leu638Ser
ENST00000682546.1:c.1910T>C	ENSP00000508188.1:p.Leu637Ser
ENST00000682585.1:c.1913T>C	ENSP00000506885.1:p.Leu638Ser
ENST00000682595.1:n.2495T>C
ENST00000682607.1:c.331T>C
ENST00000682779.1:c.1904T>C	ENSP00000507947.1:p.Leu635Ser
ENST00000682885.1:c.1913T>C	ENSP00000508036.1:p.Leu638Ser
ENST00000682933.1:n.1987T>C
ENST00000683072.1:n.2495T>C
ENST00000683082.1:n.1931T>C
ENST00000683125.1:c.1913T>C	ENSP00000507939.1:p.Leu638Ser
ENST00000683213.1:c.1916T>C	ENSP00000507751.1:p.Leu639Ser
ENST00000683220.1:c.1943T>C	ENSP00000507151.1:p.Leu648Ser
ENST00000683329.1:n.2716T>C
ENST00000683346.1:c.*1788T>C	ENSP00000507458.1:n.*1788T>C
ENST00000683459.1:n.2500T>C
ENST00000683590.1:c.1913T>C	ENSP00000506820.1:p.Leu638Ser
ENST00000683623.1:c.1913T>C	ENSP00000507702.1:p.Leu638Ser
ENST00000683645.1:n.2464T>C
ENST00000683694.1:n.664T>C
ENST00000683796.1:c.*1785T>C	ENSP00000508221.1:n.*1785T>C
ENST00000683802.1:n.4838T>C
ENST00000683833.1:c.1904T>C	ENSP00000506852.1:p.Leu635Ser
ENST00000683934.1:c.1799T>C
ENST00000683989.1:c.1913T>C	ENSP00000507510.1:p.Leu638Ser
ENST00000683994.1:c.1913T>C	ENSP00000507181.1:p.Leu638Ser
ENST00000684290.1:c.1913T>C	ENSP00000507243.1:p.Leu638Ser
ENST00000684306.1:c.*1826T>C	ENSP00000508384.1:n.*1826T>C
ENST00000684341.1:n.1933T>C
ENST00000684383.1:c.*1551T>C	ENSP00000506863.1:n.*1551T>C
ENST00000684482.1:c.4382T>C
ENST00000684619.1:c.*1785T>C	ENSP00000508088.1:n.*1785T>C
ENST00000684743.1:n.2944T>C
ENST00000260665.12:c.1913T>C MANE Select	ENSP00000260665.7:p.Leu638Ser
ENST00000260665.11:c.1913T>C	ENSP00000260665.7:p.Leu638Ser
NM_133259.3:c.1913T>C	NP_573566.2:p.Leu638Ser
XM_006711915.2:c.1835T>C	XP_006711978.1:p.Leu612Ser
XM_006711916.2:c.1913T>C	XP_006711979.1:p.Leu638Ser
XM_011532473.1:c.1913T>C	XP_011530775.1:p.Leu638Ser
XM_011532474.1:c.1913T>C	XP_011530776.1:p.Leu638Ser
XM_006711916.3:c.1913T>C	XP_006711979.1:p.Leu638Ser
XM_017003117.1:c.1835T>C	XP_016858606.1:p.Leu612Ser
XR_002958896.1:n.1955T>C
NM_133259.4:c.1913T>C MANE Select	NP_573566.2:p.Leu638Ser