Canonical Allele Identifier: CA346665044

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905740-C-A
• MyVariant Identifiers: chr2:g.44132879C>A (hg19) ; chr2:g.43905740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905740C>A , CM000664.2:g.43905740C>A	GRCh38
NC_000002.11:g.44132879C>A , CM000664.1:g.44132879C>A	GRCh37
NC_000002.10:g.43986383C>A	NCBI36
NG_008247.1:g.95266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.395G>T
ENST00000681993.1:n.868G>T
ENST00000682295.1:c.471G>T	ENSP00000507499.1:n.471G>T
ENST00000682303.1:c.*3102G>T	ENSP00000508325.1:n.*3102G>T
ENST00000682308.1:c.3316G>T	ENSP00000507056.1:p.Ala1106Ser
ENST00000682480.1:c.3334G>T	ENSP00000508344.1:p.Ala1112Ser
ENST00000682546.1:c.3313G>T	ENSP00000508188.1:p.Ala1105Ser
ENST00000682585.1:c.3316G>T	ENSP00000506885.1:p.Ala1106Ser
ENST00000682595.1:n.3900G>T
ENST00000682607.1:c.1734G>T
ENST00000682612.1:c.168G>T
ENST00000682779.1:c.3307G>T	ENSP00000507947.1:p.Ala1103Ser
ENST00000682845.1:n.2418G>T
ENST00000682885.1:c.3271G>T	ENSP00000508036.1:p.Ala1091Ser
ENST00000682933.1:n.3390G>T
ENST00000683002.1:c.168G>T
ENST00000683072.1:n.3900G>T
ENST00000683080.1:n.935G>T
ENST00000683125.1:c.3424G>T	ENSP00000507939.1:p.Ala1142Ser
ENST00000683213.1:c.3319G>T	ENSP00000507751.1:p.Ala1107Ser
ENST00000683220.1:c.3346G>T	ENSP00000507151.1:p.Ala1116Ser
ENST00000683329.1:n.4119G>T
ENST00000683346.1:c.*3191G>T	ENSP00000507458.1:n.*3191G>T
ENST00000683409.1:n.1923G>T
ENST00000683459.1:n.3903G>T
ENST00000683528.1:c.168G>T
ENST00000683590.1:c.3064G>T	ENSP00000506820.1:p.Ala1022Ser
ENST00000683623.1:c.3223G>T	ENSP00000507702.1:p.Ala1075Ser
ENST00000683645.1:n.3867G>T
ENST00000683796.1:c.*3188G>T	ENSP00000508221.1:n.*3188G>T
ENST00000683802.1:n.6241G>T
ENST00000683833.1:c.3307G>T	ENSP00000506852.1:p.Ala1103Ser
ENST00000683994.1:c.3316G>T	ENSP00000507181.1:p.Ala1106Ser
ENST00000684290.1:c.*852G>T	ENSP00000507243.1:n.*852G>T
ENST00000684306.1:c.*3229G>T	ENSP00000508384.1:n.*3229G>T
ENST00000684341.1:n.3336G>T
ENST00000684383.1:c.*2954G>T	ENSP00000506863.1:n.*2954G>T
ENST00000684418.1:n.4497G>T
ENST00000684454.1:n.2666G>T
ENST00000684619.1:c.*3188G>T	ENSP00000508088.1:n.*3188G>T
ENST00000684743.1:n.4347G>T
ENST00000260665.12:c.3316G>T MANE Select	ENSP00000260665.7:p.Ala1106Ser
ENST00000260665.11:c.3316G>T	ENSP00000260665.7:p.Ala1106Ser
NM_133259.3:c.3316G>T	NP_573566.2:p.Ala1106Ser
XM_006711915.2:c.3238G>T	XP_006711978.1:p.Ala1080Ser
XM_011532473.1:c.3316G>T	XP_011530775.1:p.Ala1106Ser
XM_011532474.1:c.3316G>T	XP_011530776.1:p.Ala1106Ser
XM_017003117.1:c.3238G>T	XP_016858606.1:p.Ala1080Ser
XR_002958896.1:n.3358G>T
NM_133259.4:c.3316G>T MANE Select	NP_573566.2:p.Ala1106Ser