Canonical Allele Identifier: CA425909735

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1956603
• ClinVar RCV Id: RCV002700966
• dbSNP Id: rs778169228
• gnomAD v3: 2-43943776-T-G
• gnomAD v4: 2-43943776-T-G
• MyVariant Identifiers: chr2:g.44170915T>G (hg19) ; chr2:g.43943776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943776T>G , CM000664.2:g.43943776T>G	GRCh38
NC_000002.11:g.44170915T>G , CM000664.1:g.44170915T>G	GRCh37
NC_000002.10:g.44024419T>G	NCBI36
NG_008247.1:g.57230A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2415A>C	ENSP00000386562.2:p.Val805=
ENST00000447246.2:c.2415A>C	ENSP00000403637.2:p.Val805=
ENST00000681961.1:n.2435A>C
ENST00000682104.1:c.2289A>C	ENSP00000507716.1:p.Val763=
ENST00000682303.1:c.*2201A>C	ENSP00000508325.1:n.*2201A>C
ENST00000682308.1:c.2415A>C	ENSP00000507056.1:p.Val805=
ENST00000682480.1:c.2415A>C	ENSP00000508344.1:p.Val805=
ENST00000682546.1:c.2412A>C	ENSP00000508188.1:p.Val804=
ENST00000682585.1:c.2415A>C	ENSP00000506885.1:p.Val805=
ENST00000682595.1:n.2997A>C
ENST00000682607.1:c.833A>C
ENST00000682779.1:c.2406A>C	ENSP00000507947.1:p.Val802=
ENST00000682845.1:n.1517A>C
ENST00000682885.1:c.2370A>C	ENSP00000508036.1:p.Val790=
ENST00000682933.1:n.2489A>C
ENST00000683072.1:n.2997A>C
ENST00000683125.1:c.2415A>C	ENSP00000507939.1:p.Val805=
ENST00000683213.1:c.2418A>C	ENSP00000507751.1:p.Val806=
ENST00000683220.1:c.2445A>C	ENSP00000507151.1:p.Val815=
ENST00000683329.1:n.3218A>C
ENST00000683346.1:c.*2290A>C	ENSP00000507458.1:n.*2290A>C
ENST00000683459.1:n.3002A>C
ENST00000683590.1:c.2415A>C	ENSP00000506820.1:p.Val805=
ENST00000683623.1:c.2322A>C	ENSP00000507702.1:p.Val774=
ENST00000683645.1:n.2966A>C
ENST00000683694.1:n.1166A>C
ENST00000683796.1:c.*2287A>C	ENSP00000508221.1:n.*2287A>C
ENST00000683802.1:n.5340A>C
ENST00000683833.1:c.2406A>C	ENSP00000506852.1:p.Val802=
ENST00000683989.1:c.2415A>C	ENSP00000507510.1:p.Val805=
ENST00000683994.1:c.2415A>C	ENSP00000507181.1:p.Val805=
ENST00000684290.1:c.*109A>C	ENSP00000507243.1:n.*109A>C
ENST00000684306.1:c.*2328A>C	ENSP00000508384.1:n.*2328A>C
ENST00000684341.1:n.2435A>C
ENST00000684383.1:c.*2053A>C	ENSP00000506863.1:n.*2053A>C
ENST00000684397.1:c.119A>C
ENST00000684619.1:c.*2287A>C	ENSP00000508088.1:n.*2287A>C
ENST00000684743.1:n.3446A>C
ENST00000260665.12:c.2415A>C MANE Select	ENSP00000260665.7:p.Val805=
ENST00000260665.11:c.2415A>C	ENSP00000260665.7:p.Val805=
NM_133259.3:c.2415A>C	NP_573566.2:p.Val805=
XM_006711915.2:c.2337A>C	XP_006711978.1:p.Val779=
XM_006711916.2:c.2415A>C	XP_006711979.1:p.Val805=
XM_011532473.1:c.2415A>C	XP_011530775.1:p.Val805=
XM_011532474.1:c.2415A>C	XP_011530776.1:p.Val805=
XM_006711916.3:c.2415A>C	XP_006711979.1:p.Val805=
XM_017003117.1:c.2337A>C	XP_016858606.1:p.Val779=
XR_002958896.1:n.2457A>C
NM_133259.4:c.2415A>C MANE Select	NP_573566.2:p.Val805=