Canonical Allele Identifier: CA346674840

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2163832
• ClinVar RCV Id: RCV003081946
• gnomAD v4: 2-43894595-G-A
• MyVariant Identifiers: chr2:g.44121734G>A (hg19) ; chr2:g.43894595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894595G>A , CM000664.2:g.43894595G>A	GRCh38
NC_000002.11:g.44121734G>A , CM000664.1:g.44121734G>A	GRCh37
NC_000002.10:g.43975238G>A	NCBI36
NG_008247.1:g.106411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.565C>T
ENST00000681993.1:n.1487C>T
ENST00000682154.1:n.1369C>T
ENST00000682303.1:c.*3646C>T	ENSP00000508325.1:n.*3646C>T
ENST00000682308.1:c.3860C>T	ENSP00000507056.1:p.Pro1287Leu
ENST00000682434.1:n.3490C>T
ENST00000682480.1:c.3953C>T	ENSP00000508344.1:p.Pro1318Leu
ENST00000682546.1:c.3932C>T	ENSP00000508188.1:p.Pro1311Leu
ENST00000682585.1:c.*63C>T	ENSP00000506885.1:n.*63C>T
ENST00000682607.1:c.2678C>T
ENST00000682612.1:c.752+2039C>T
ENST00000682696.1:c.35C>T	ENSP00000508411.1:p.Pro12Leu
ENST00000682779.1:c.3926C>T	ENSP00000507947.1:p.Pro1309Leu
ENST00000682885.1:c.3890C>T	ENSP00000508036.1:p.Pro1297Leu
ENST00000682933.1:n.4135C>T
ENST00000683002.1:c.787C>T
ENST00000683072.1:n.4519C>T
ENST00000683080.1:n.1554C>T
ENST00000683096.1:n.2376C>T
ENST00000683125.1:c.4043C>T	ENSP00000507939.1:p.Pro1348Leu
ENST00000683213.1:c.3938C>T	ENSP00000507751.1:p.Pro1313Leu
ENST00000683220.1:c.3965C>T	ENSP00000507151.1:p.Pro1322Leu
ENST00000683329.1:n.4738C>T
ENST00000683346.1:c.*3810C>T	ENSP00000507458.1:n.*3810C>T
ENST00000683409.1:n.2467C>T
ENST00000683459.1:n.4522C>T
ENST00000683590.1:c.3608C>T	ENSP00000506820.1:p.Pro1203Leu
ENST00000683623.1:c.3842C>T	ENSP00000507702.1:p.Pro1281Leu
ENST00000683796.1:c.*3732C>T	ENSP00000508221.1:n.*3732C>T
ENST00000683833.1:c.3851C>T	ENSP00000506852.1:p.Pro1284Leu
ENST00000683994.1:c.*48C>T	ENSP00000507181.1:n.*48C>T
ENST00000684290.1:c.*1396C>T	ENSP00000507243.1:n.*1396C>T
ENST00000684306.1:c.*3848C>T	ENSP00000508384.1:n.*3848C>T
ENST00000684383.1:c.*3573C>T	ENSP00000506863.1:n.*3573C>T
ENST00000684418.1:n.5116C>T
ENST00000684433.1:n.319C>T
ENST00000684454.1:n.7799C>T
ENST00000684619.1:c.*3807C>T	ENSP00000508088.1:n.*3807C>T
ENST00000684743.1:n.6680C>T
ENST00000260665.12:c.3935C>T MANE Select	ENSP00000260665.7:p.Pro1312Leu
ENST00000260665.11:c.3935C>T	ENSP00000260665.7:p.Pro1312Leu
ENST00000419884.5:c.176C>T	ENSP00000414207.1:p.Pro59Leu
ENST00000463456.5:n.2978C>T
NM_133259.3:c.3935C>T	NP_573566.2:p.Pro1312Leu
XM_006711915.2:c.3857C>T	XP_006711978.1:p.Pro1286Leu
XM_011532473.1:c.3860C>T	XP_011530775.1:p.Pro1287Leu
XM_011532474.1:c.3935C>T	XP_011530776.1:p.Pro1312Leu
XM_017003117.1:c.3782C>T	XP_016858606.1:p.Pro1261Leu
XR_002958896.1:n.3977C>T
NM_133259.4:c.3935C>T MANE Select	NP_573566.2:p.Pro1312Leu