Canonical Allele Identifier: CA425909265

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899258-C-T
• MyVariant Identifiers: chr2:g.44126397C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899258C>T , CM000664.2:g.43899258C>T	GRCh38
NC_000002.11:g.44126397C>T , CM000664.1:g.44126397C>T	GRCh37
NC_000002.10:g.43979901C>T	NCBI36
NG_008247.1:g.101748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.217G>A
ENST00000472420.6:n.865G>A
ENST00000483489.2:n.217G>A
ENST00000681993.1:n.1338G>A
ENST00000682303.1:c.*3572G>A	ENSP00000508325.1:n.*3572G>A
ENST00000682308.1:c.3786G>A	ENSP00000507056.1:p.Val1262=
ENST00000682434.1:n.1337G>A
ENST00000682480.1:c.3804G>A	ENSP00000508344.1:p.Val1268=
ENST00000682546.1:c.3783G>A	ENSP00000508188.1:p.Val1261=
ENST00000682585.1:c.3786G>A	ENSP00000506885.1:p.Val1262=
ENST00000682595.1:n.4370G>A
ENST00000682607.1:c.2204G>A
ENST00000682612.1:c.638G>A
ENST00000682779.1:c.3777G>A	ENSP00000507947.1:p.Val1259=
ENST00000682845.1:n.2888G>A
ENST00000682885.1:c.3741G>A	ENSP00000508036.1:p.Val1247=
ENST00000682933.1:n.3860G>A
ENST00000683002.1:c.638G>A
ENST00000683072.1:n.4370G>A
ENST00000683080.1:n.1405G>A
ENST00000683125.1:c.3894G>A	ENSP00000507939.1:p.Val1298=
ENST00000683213.1:c.3789G>A	ENSP00000507751.1:p.Val1263=
ENST00000683220.1:c.3816G>A	ENSP00000507151.1:p.Val1272=
ENST00000683329.1:n.4589G>A
ENST00000683346.1:c.*3661G>A	ENSP00000507458.1:n.*3661G>A
ENST00000683409.1:n.2393G>A
ENST00000683459.1:n.4373G>A
ENST00000683528.1:c.714G>A
ENST00000683590.1:c.3534G>A	ENSP00000506820.1:p.Val1178=
ENST00000683623.1:c.3693G>A	ENSP00000507702.1:p.Val1231=
ENST00000683645.1:n.4337G>A
ENST00000683796.1:c.*3658G>A	ENSP00000508221.1:n.*3658G>A
ENST00000683802.1:n.6711G>A
ENST00000683833.1:c.3777G>A	ENSP00000506852.1:p.Val1259=
ENST00000683994.1:c.3786G>A	ENSP00000507181.1:p.Val1262=
ENST00000684290.1:c.*1322G>A	ENSP00000507243.1:n.*1322G>A
ENST00000684306.1:c.*3699G>A	ENSP00000508384.1:n.*3699G>A
ENST00000684341.1:n.3806G>A
ENST00000684383.1:c.*3424G>A	ENSP00000506863.1:n.*3424G>A
ENST00000684418.1:n.4967G>A
ENST00000684433.1:n.170G>A
ENST00000684454.1:n.3136G>A
ENST00000684619.1:c.*3658G>A	ENSP00000508088.1:n.*3658G>A
ENST00000684743.1:n.6531G>A
ENST00000260665.12:c.3786G>A MANE Select	ENSP00000260665.7:p.Val1262=
ENST00000260665.11:c.3786G>A	ENSP00000260665.7:p.Val1262=
ENST00000419884.5:c.27G>A	ENSP00000414207.1:p.Val9=
ENST00000463456.5:n.2829G>A
ENST00000472420.5:n.183G>A
ENST00000483489.1:n.260G>A
NM_133259.3:c.3786G>A	NP_573566.2:p.Val1262=
XM_006711915.2:c.3708G>A	XP_006711978.1:p.Val1236=
XM_011532473.1:c.3786G>A	XP_011530775.1:p.Val1262=
XM_011532474.1:c.3786G>A	XP_011530776.1:p.Val1262=
XM_017003117.1:c.3708G>A	XP_016858606.1:p.Val1236=
XR_002958896.1:n.3828G>A
NM_133259.4:c.3786G>A MANE Select	NP_573566.2:p.Val1262=