Canonical Allele Identifier: CA425908270

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905771-G-A
• MyVariant Identifiers: chr2:g.44132910G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905771G>A , CM000664.2:g.43905771G>A	GRCh38
NC_000002.11:g.44132910G>A , CM000664.1:g.44132910G>A	GRCh37
NC_000002.10:g.43986414G>A	NCBI36
NG_008247.1:g.95235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.364C>T
ENST00000681993.1:n.837C>T
ENST00000682295.1:c.440C>T	ENSP00000507499.1:n.440C>T
ENST00000682303.1:c.*3071C>T	ENSP00000508325.1:n.*3071C>T
ENST00000682308.1:c.3285C>T	ENSP00000507056.1:p.Thr1095=
ENST00000682480.1:c.3303C>T	ENSP00000508344.1:p.Thr1101=
ENST00000682546.1:c.3282C>T	ENSP00000508188.1:p.Thr1094=
ENST00000682585.1:c.3285C>T	ENSP00000506885.1:p.Thr1095=
ENST00000682595.1:n.3869C>T
ENST00000682607.1:c.1703C>T
ENST00000682612.1:c.137C>T
ENST00000682779.1:c.3276C>T	ENSP00000507947.1:p.Thr1092=
ENST00000682845.1:n.2387C>T
ENST00000682885.1:c.3240C>T	ENSP00000508036.1:p.Thr1080=
ENST00000682933.1:n.3359C>T
ENST00000683002.1:c.137C>T
ENST00000683072.1:n.3869C>T
ENST00000683080.1:n.904C>T
ENST00000683125.1:c.3393C>T	ENSP00000507939.1:p.Thr1131=
ENST00000683213.1:c.3288C>T	ENSP00000507751.1:p.Thr1096=
ENST00000683220.1:c.3315C>T	ENSP00000507151.1:p.Thr1105=
ENST00000683329.1:n.4088C>T
ENST00000683346.1:c.*3160C>T	ENSP00000507458.1:n.*3160C>T
ENST00000683409.1:n.1892C>T
ENST00000683459.1:n.3872C>T
ENST00000683528.1:c.137C>T
ENST00000683590.1:c.3033C>T	ENSP00000506820.1:p.Thr1011=
ENST00000683623.1:c.3192C>T	ENSP00000507702.1:p.Thr1064=
ENST00000683645.1:n.3836C>T
ENST00000683796.1:c.*3157C>T	ENSP00000508221.1:n.*3157C>T
ENST00000683802.1:n.6210C>T
ENST00000683833.1:c.3276C>T	ENSP00000506852.1:p.Thr1092=
ENST00000683994.1:c.3285C>T	ENSP00000507181.1:p.Thr1095=
ENST00000684290.1:c.*821C>T	ENSP00000507243.1:n.*821C>T
ENST00000684306.1:c.*3198C>T	ENSP00000508384.1:n.*3198C>T
ENST00000684341.1:n.3305C>T
ENST00000684383.1:c.*2923C>T	ENSP00000506863.1:n.*2923C>T
ENST00000684418.1:n.4466C>T
ENST00000684454.1:n.2635C>T
ENST00000684619.1:c.*3157C>T	ENSP00000508088.1:n.*3157C>T
ENST00000684743.1:n.4316C>T
ENST00000260665.12:c.3285C>T MANE Select	ENSP00000260665.7:p.Thr1095=
ENST00000260665.11:c.3285C>T	ENSP00000260665.7:p.Thr1095=
NM_133259.3:c.3285C>T	NP_573566.2:p.Thr1095=
XM_006711915.2:c.3207C>T	XP_006711978.1:p.Thr1069=
XM_011532473.1:c.3285C>T	XP_011530775.1:p.Thr1095=
XM_011532474.1:c.3285C>T	XP_011530776.1:p.Thr1095=
XM_017003117.1:c.3207C>T	XP_016858606.1:p.Thr1069=
XR_002958896.1:n.3327C>T
NM_133259.4:c.3285C>T MANE Select	NP_573566.2:p.Thr1095=