Canonical Allele Identifier: CA346665041

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905739-G-A
• MyVariant Identifiers: chr2:g.44132878G>A (hg19) ; chr2:g.43905739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905739G>A , CM000664.2:g.43905739G>A	GRCh38
NC_000002.11:g.44132878G>A , CM000664.1:g.44132878G>A	GRCh37
NC_000002.10:g.43986382G>A	NCBI36
NG_008247.1:g.95267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.396C>T
ENST00000681993.1:n.869C>T
ENST00000682295.1:c.472C>T	ENSP00000507499.1:n.472C>T
ENST00000682303.1:c.*3103C>T	ENSP00000508325.1:n.*3103C>T
ENST00000682308.1:c.3317C>T	ENSP00000507056.1:p.Ala1106Val
ENST00000682480.1:c.3335C>T	ENSP00000508344.1:p.Ala1112Val
ENST00000682546.1:c.3314C>T	ENSP00000508188.1:p.Ala1105Val
ENST00000682585.1:c.3317C>T	ENSP00000506885.1:p.Ala1106Val
ENST00000682595.1:n.3901C>T
ENST00000682607.1:c.1735C>T
ENST00000682612.1:c.169C>T
ENST00000682779.1:c.3308C>T	ENSP00000507947.1:p.Ala1103Val
ENST00000682845.1:n.2419C>T
ENST00000682885.1:c.3272C>T	ENSP00000508036.1:p.Ala1091Val
ENST00000682933.1:n.3391C>T
ENST00000683002.1:c.169C>T
ENST00000683072.1:n.3901C>T
ENST00000683080.1:n.936C>T
ENST00000683125.1:c.3425C>T	ENSP00000507939.1:p.Ala1142Val
ENST00000683213.1:c.3320C>T	ENSP00000507751.1:p.Ala1107Val
ENST00000683220.1:c.3347C>T	ENSP00000507151.1:p.Ala1116Val
ENST00000683329.1:n.4120C>T
ENST00000683346.1:c.*3192C>T	ENSP00000507458.1:n.*3192C>T
ENST00000683409.1:n.1924C>T
ENST00000683459.1:n.3904C>T
ENST00000683528.1:c.169C>T
ENST00000683590.1:c.3065C>T	ENSP00000506820.1:p.Ala1022Val
ENST00000683623.1:c.3224C>T	ENSP00000507702.1:p.Ala1075Val
ENST00000683645.1:n.3868C>T
ENST00000683796.1:c.*3189C>T	ENSP00000508221.1:n.*3189C>T
ENST00000683802.1:n.6242C>T
ENST00000683833.1:c.3308C>T	ENSP00000506852.1:p.Ala1103Val
ENST00000683994.1:c.3317C>T	ENSP00000507181.1:p.Ala1106Val
ENST00000684290.1:c.*853C>T	ENSP00000507243.1:n.*853C>T
ENST00000684306.1:c.*3230C>T	ENSP00000508384.1:n.*3230C>T
ENST00000684341.1:n.3337C>T
ENST00000684383.1:c.*2955C>T	ENSP00000506863.1:n.*2955C>T
ENST00000684418.1:n.4498C>T
ENST00000684454.1:n.2667C>T
ENST00000684619.1:c.*3189C>T	ENSP00000508088.1:n.*3189C>T
ENST00000684743.1:n.4348C>T
ENST00000260665.12:c.3317C>T MANE Select	ENSP00000260665.7:p.Ala1106Val
ENST00000260665.11:c.3317C>T	ENSP00000260665.7:p.Ala1106Val
NM_133259.3:c.3317C>T	NP_573566.2:p.Ala1106Val
XM_006711915.2:c.3239C>T	XP_006711978.1:p.Ala1080Val
XM_011532473.1:c.3317C>T	XP_011530775.1:p.Ala1106Val
XM_011532474.1:c.3317C>T	XP_011530776.1:p.Ala1106Val
XM_017003117.1:c.3239C>T	XP_016858606.1:p.Ala1080Val
XR_002958896.1:n.3359C>T
NM_133259.4:c.3317C>T MANE Select	NP_573566.2:p.Ala1106Val