Canonical Allele Identifier: CA346676370

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126374G>T (hg19) ; chr2:g.43899235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899235G>T , CM000664.2:g.43899235G>T	GRCh38
NC_000002.11:g.44126374G>T , CM000664.1:g.44126374G>T	GRCh37
NC_000002.10:g.43979878G>T	NCBI36
NG_008247.1:g.101771C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.240C>A
ENST00000472420.6:n.888C>A
ENST00000483489.2:n.240C>A
ENST00000681993.1:n.1361C>A
ENST00000682303.1:c.*3595C>A	ENSP00000508325.1:n.*3595C>A
ENST00000682308.1:c.3809C>A	ENSP00000507056.1:p.Ala1270Asp
ENST00000682434.1:n.1360C>A
ENST00000682480.1:c.3827C>A	ENSP00000508344.1:p.Ala1276Asp
ENST00000682546.1:c.3806C>A	ENSP00000508188.1:p.Ala1269Asp
ENST00000682585.1:c.3809C>A	ENSP00000506885.1:p.Ala1270Asp
ENST00000682595.1:n.4393C>A
ENST00000682607.1:c.2227C>A
ENST00000682612.1:c.661C>A
ENST00000682779.1:c.3800C>A	ENSP00000507947.1:p.Ala1267Asp
ENST00000682885.1:c.3764C>A	ENSP00000508036.1:p.Ala1255Asp
ENST00000682933.1:n.3883C>A
ENST00000683002.1:c.661C>A
ENST00000683072.1:n.4393C>A
ENST00000683080.1:n.1428C>A
ENST00000683125.1:c.3917C>A	ENSP00000507939.1:p.Ala1306Asp
ENST00000683213.1:c.3812C>A	ENSP00000507751.1:p.Ala1271Asp
ENST00000683220.1:c.3839C>A	ENSP00000507151.1:p.Ala1280Asp
ENST00000683329.1:n.4612C>A
ENST00000683346.1:c.*3684C>A	ENSP00000507458.1:n.*3684C>A
ENST00000683409.1:n.2416C>A
ENST00000683459.1:n.4396C>A
ENST00000683528.1:c.737C>A
ENST00000683590.1:c.3557C>A	ENSP00000506820.1:p.Ala1186Asp
ENST00000683623.1:c.3716C>A	ENSP00000507702.1:p.Ala1239Asp
ENST00000683645.1:n.4360C>A
ENST00000683796.1:c.*3681C>A	ENSP00000508221.1:n.*3681C>A
ENST00000683802.1:n.6734C>A
ENST00000683833.1:c.3800C>A	ENSP00000506852.1:p.Ala1267Asp
ENST00000683994.1:c.3809C>A	ENSP00000507181.1:p.Ala1270Asp
ENST00000684290.1:c.*1345C>A	ENSP00000507243.1:n.*1345C>A
ENST00000684306.1:c.*3722C>A	ENSP00000508384.1:n.*3722C>A
ENST00000684341.1:n.3829C>A
ENST00000684383.1:c.*3447C>A	ENSP00000506863.1:n.*3447C>A
ENST00000684418.1:n.4990C>A
ENST00000684433.1:n.193C>A
ENST00000684454.1:n.3159C>A
ENST00000684619.1:c.*3681C>A	ENSP00000508088.1:n.*3681C>A
ENST00000684743.1:n.6554C>A
ENST00000260665.12:c.3809C>A MANE Select	ENSP00000260665.7:p.Ala1270Asp
ENST00000260665.11:c.3809C>A	ENSP00000260665.7:p.Ala1270Asp
ENST00000419884.5:c.50C>A	ENSP00000414207.1:p.Ala17Asp
ENST00000463456.5:n.2852C>A
ENST00000472420.5:n.206C>A
ENST00000483489.1:n.283C>A
NM_133259.3:c.3809C>A	NP_573566.2:p.Ala1270Asp
XM_006711915.2:c.3731C>A	XP_006711978.1:p.Ala1244Asp
XM_011532473.1:c.3809C>A	XP_011530775.1:p.Ala1270Asp
XM_011532474.1:c.3809C>A	XP_011530776.1:p.Ala1270Asp
XM_017003117.1:c.3731C>A	XP_016858606.1:p.Ala1244Asp
XR_002958896.1:n.3851C>A
NM_133259.4:c.3809C>A MANE Select	NP_573566.2:p.Ala1270Asp