Canonical Allele Identifier: CA425908228

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1083187
• ClinVar RCV Id: RCV001399794
• dbSNP Id: rs1381842046
• gnomAD v2: 2-44132886-G-A
• gnomAD v3: 2-43905747-G-A
• gnomAD v4: 2-43905747-G-A
• MyVariant Identifiers: chr2:g.44132886G>A (hg19) ; chr2:g.43905747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905747G>A , CM000664.2:g.43905747G>A	GRCh38
NC_000002.11:g.44132886G>A , CM000664.1:g.44132886G>A	GRCh37
NC_000002.10:g.43986390G>A	NCBI36
NG_008247.1:g.95259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.388C>T
ENST00000681993.1:n.861C>T
ENST00000682295.1:c.464C>T	ENSP00000507499.1:n.464C>T
ENST00000682303.1:c.*3095C>T	ENSP00000508325.1:n.*3095C>T
ENST00000682308.1:c.3309C>T	ENSP00000507056.1:p.Asn1103=
ENST00000682480.1:c.3327C>T	ENSP00000508344.1:p.Asn1109=
ENST00000682546.1:c.3306C>T	ENSP00000508188.1:p.Asn1102=
ENST00000682585.1:c.3309C>T	ENSP00000506885.1:p.Asn1103=
ENST00000682595.1:n.3893C>T
ENST00000682607.1:c.1727C>T
ENST00000682612.1:c.161C>T
ENST00000682779.1:c.3300C>T	ENSP00000507947.1:p.Asn1100=
ENST00000682845.1:n.2411C>T
ENST00000682885.1:c.3264C>T	ENSP00000508036.1:p.Asn1088=
ENST00000682933.1:n.3383C>T
ENST00000683002.1:c.161C>T
ENST00000683072.1:n.3893C>T
ENST00000683080.1:n.928C>T
ENST00000683125.1:c.3417C>T	ENSP00000507939.1:p.Asn1139=
ENST00000683213.1:c.3312C>T	ENSP00000507751.1:p.Asn1104=
ENST00000683220.1:c.3339C>T	ENSP00000507151.1:p.Asn1113=
ENST00000683329.1:n.4112C>T
ENST00000683346.1:c.*3184C>T	ENSP00000507458.1:n.*3184C>T
ENST00000683409.1:n.1916C>T
ENST00000683459.1:n.3896C>T
ENST00000683528.1:c.161C>T
ENST00000683590.1:c.3057C>T	ENSP00000506820.1:p.Asn1019=
ENST00000683623.1:c.3216C>T	ENSP00000507702.1:p.Asn1072=
ENST00000683645.1:n.3860C>T
ENST00000683796.1:c.*3181C>T	ENSP00000508221.1:n.*3181C>T
ENST00000683802.1:n.6234C>T
ENST00000683833.1:c.3300C>T	ENSP00000506852.1:p.Asn1100=
ENST00000683994.1:c.3309C>T	ENSP00000507181.1:p.Asn1103=
ENST00000684290.1:c.*845C>T	ENSP00000507243.1:n.*845C>T
ENST00000684306.1:c.*3222C>T	ENSP00000508384.1:n.*3222C>T
ENST00000684341.1:n.3329C>T
ENST00000684383.1:c.*2947C>T	ENSP00000506863.1:n.*2947C>T
ENST00000684418.1:n.4490C>T
ENST00000684454.1:n.2659C>T
ENST00000684619.1:c.*3181C>T	ENSP00000508088.1:n.*3181C>T
ENST00000684743.1:n.4340C>T
ENST00000260665.12:c.3309C>T MANE Select	ENSP00000260665.7:p.Asn1103=
ENST00000260665.11:c.3309C>T	ENSP00000260665.7:p.Asn1103=
NM_133259.3:c.3309C>T	NP_573566.2:p.Asn1103=
XM_006711915.2:c.3231C>T	XP_006711978.1:p.Asn1077=
XM_011532473.1:c.3309C>T	XP_011530775.1:p.Asn1103=
XM_011532474.1:c.3309C>T	XP_011530776.1:p.Asn1103=
XM_017003117.1:c.3231C>T	XP_016858606.1:p.Asn1077=
XR_002958896.1:n.3351C>T
NM_133259.4:c.3309C>T MANE Select	NP_573566.2:p.Asn1103=