Canonical Allele Identifier: CA346676689

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899310-G-A
• MyVariant Identifiers: chr2:g.44126449G>A (hg19) ; chr2:g.43899310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899310G>A , CM000664.2:g.43899310G>A	GRCh38
NC_000002.11:g.44126449G>A , CM000664.1:g.44126449G>A	GRCh37
NC_000002.10:g.43979953G>A	NCBI36
NG_008247.1:g.101696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.165C>T
ENST00000472420.6:n.813C>T
ENST00000483489.2:n.165C>T
ENST00000681993.1:n.1286C>T
ENST00000682303.1:c.*3520C>T	ENSP00000508325.1:n.*3520C>T
ENST00000682308.1:c.3734C>T	ENSP00000507056.1:p.Ala1245Val
ENST00000682434.1:n.1285C>T
ENST00000682480.1:c.3752C>T	ENSP00000508344.1:p.Ala1251Val
ENST00000682546.1:c.3731C>T	ENSP00000508188.1:p.Ala1244Val
ENST00000682585.1:c.3734C>T	ENSP00000506885.1:p.Ala1245Val
ENST00000682595.1:n.4318C>T
ENST00000682607.1:c.2152C>T
ENST00000682612.1:c.586C>T
ENST00000682779.1:c.3725C>T	ENSP00000507947.1:p.Ala1242Val
ENST00000682845.1:n.2836C>T
ENST00000682885.1:c.3689C>T	ENSP00000508036.1:p.Ala1230Val
ENST00000682933.1:n.3808C>T
ENST00000683002.1:c.586C>T
ENST00000683072.1:n.4318C>T
ENST00000683080.1:n.1353C>T
ENST00000683125.1:c.3842C>T	ENSP00000507939.1:p.Ala1281Val
ENST00000683213.1:c.3737C>T	ENSP00000507751.1:p.Ala1246Val
ENST00000683220.1:c.3764C>T	ENSP00000507151.1:p.Ala1255Val
ENST00000683329.1:n.4537C>T
ENST00000683346.1:c.*3609C>T	ENSP00000507458.1:n.*3609C>T
ENST00000683409.1:n.2341C>T
ENST00000683459.1:n.4321C>T
ENST00000683528.1:c.662C>T
ENST00000683590.1:c.3482C>T	ENSP00000506820.1:p.Ala1161Val
ENST00000683623.1:c.3641C>T	ENSP00000507702.1:p.Ala1214Val
ENST00000683645.1:n.4285C>T
ENST00000683796.1:c.*3606C>T	ENSP00000508221.1:n.*3606C>T
ENST00000683802.1:n.6659C>T
ENST00000683833.1:c.3725C>T	ENSP00000506852.1:p.Ala1242Val
ENST00000683994.1:c.3734C>T	ENSP00000507181.1:p.Ala1245Val
ENST00000684290.1:c.*1270C>T	ENSP00000507243.1:n.*1270C>T
ENST00000684306.1:c.*3647C>T	ENSP00000508384.1:n.*3647C>T
ENST00000684341.1:n.3754C>T
ENST00000684383.1:c.*3372C>T	ENSP00000506863.1:n.*3372C>T
ENST00000684418.1:n.4915C>T
ENST00000684433.1:n.118C>T
ENST00000684454.1:n.3084C>T
ENST00000684619.1:c.*3606C>T	ENSP00000508088.1:n.*3606C>T
ENST00000684743.1:n.6479C>T
ENST00000260665.12:c.3734C>T MANE Select	ENSP00000260665.7:p.Ala1245Val
ENST00000260665.11:c.3734C>T	ENSP00000260665.7:p.Ala1245Val
ENST00000463456.5:n.2777C>T
ENST00000472420.5:n.131C>T
ENST00000483489.1:n.208C>T
NM_133259.3:c.3734C>T	NP_573566.2:p.Ala1245Val
XM_006711915.2:c.3656C>T	XP_006711978.1:p.Ala1219Val
XM_011532473.1:c.3734C>T	XP_011530775.1:p.Ala1245Val
XM_011532474.1:c.3734C>T	XP_011530776.1:p.Ala1245Val
XM_017003117.1:c.3656C>T	XP_016858606.1:p.Ala1219Val
XR_002958896.1:n.3776C>T
NM_133259.4:c.3734C>T MANE Select	NP_573566.2:p.Ala1245Val