Canonical Allele Identifier: CA425909252

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2781946
• ClinVar RCV Id: RCV003662165
• gnomAD v4: 2-43899237-A-G
• MyVariant Identifiers: chr2:g.44126376A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899237A>G , CM000664.2:g.43899237A>G	GRCh38
NC_000002.11:g.44126376A>G , CM000664.1:g.44126376A>G	GRCh37
NC_000002.10:g.43979880A>G	NCBI36
NG_008247.1:g.101769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.238T>C
ENST00000472420.6:n.886T>C
ENST00000483489.2:n.238T>C
ENST00000681993.1:n.1359T>C
ENST00000682303.1:c.*3593T>C	ENSP00000508325.1:n.*3593T>C
ENST00000682308.1:c.3807T>C	ENSP00000507056.1:p.Asp1269=
ENST00000682434.1:n.1358T>C
ENST00000682480.1:c.3825T>C	ENSP00000508344.1:p.Asp1275=
ENST00000682546.1:c.3804T>C	ENSP00000508188.1:p.Asp1268=
ENST00000682585.1:c.3807T>C	ENSP00000506885.1:p.Asp1269=
ENST00000682595.1:n.4391T>C
ENST00000682607.1:c.2225T>C
ENST00000682612.1:c.659T>C
ENST00000682779.1:c.3798T>C	ENSP00000507947.1:p.Asp1266=
ENST00000682885.1:c.3762T>C	ENSP00000508036.1:p.Asp1254=
ENST00000682933.1:n.3881T>C
ENST00000683002.1:c.659T>C
ENST00000683072.1:n.4391T>C
ENST00000683080.1:n.1426T>C
ENST00000683125.1:c.3915T>C	ENSP00000507939.1:p.Asp1305=
ENST00000683213.1:c.3810T>C	ENSP00000507751.1:p.Asp1270=
ENST00000683220.1:c.3837T>C	ENSP00000507151.1:p.Asp1279=
ENST00000683329.1:n.4610T>C
ENST00000683346.1:c.*3682T>C	ENSP00000507458.1:n.*3682T>C
ENST00000683409.1:n.2414T>C
ENST00000683459.1:n.4394T>C
ENST00000683528.1:c.735T>C
ENST00000683590.1:c.3555T>C	ENSP00000506820.1:p.Asp1185=
ENST00000683623.1:c.3714T>C	ENSP00000507702.1:p.Asp1238=
ENST00000683645.1:n.4358T>C
ENST00000683796.1:c.*3679T>C	ENSP00000508221.1:n.*3679T>C
ENST00000683802.1:n.6732T>C
ENST00000683833.1:c.3798T>C	ENSP00000506852.1:p.Asp1266=
ENST00000683994.1:c.3807T>C	ENSP00000507181.1:p.Asp1269=
ENST00000684290.1:c.*1343T>C	ENSP00000507243.1:n.*1343T>C
ENST00000684306.1:c.*3720T>C	ENSP00000508384.1:n.*3720T>C
ENST00000684341.1:n.3827T>C
ENST00000684383.1:c.*3445T>C	ENSP00000506863.1:n.*3445T>C
ENST00000684418.1:n.4988T>C
ENST00000684433.1:n.191T>C
ENST00000684454.1:n.3157T>C
ENST00000684619.1:c.*3679T>C	ENSP00000508088.1:n.*3679T>C
ENST00000684743.1:n.6552T>C
ENST00000260665.12:c.3807T>C MANE Select	ENSP00000260665.7:p.Asp1269=
ENST00000260665.11:c.3807T>C	ENSP00000260665.7:p.Asp1269=
ENST00000419884.5:c.48T>C	ENSP00000414207.1:p.Asp16=
ENST00000463456.5:n.2850T>C
ENST00000472420.5:n.204T>C
ENST00000483489.1:n.281T>C
NM_133259.3:c.3807T>C	NP_573566.2:p.Asp1269=
XM_006711915.2:c.3729T>C	XP_006711978.1:p.Asp1243=
XM_011532473.1:c.3807T>C	XP_011530775.1:p.Asp1269=
XM_011532474.1:c.3807T>C	XP_011530776.1:p.Asp1269=
XM_017003117.1:c.3729T>C	XP_016858606.1:p.Asp1243=
XR_002958896.1:n.3849T>C
NM_133259.4:c.3807T>C MANE Select	NP_573566.2:p.Asp1269=