Canonical Allele Identifier: CA346668146

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1422352615
• gnomAD v3: 2-43918085-T-A
• gnomAD v4: 2-43918085-T-A
• MyVariant Identifiers: chr2:g.44145224T>A (hg19) ; chr2:g.43918085T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918085T>A , CM000664.2:g.43918085T>A	GRCh38
NC_000002.11:g.44145224T>A , CM000664.1:g.44145224T>A	GRCh37
NC_000002.10:g.43998728T>A	NCBI36
NG_008247.1:g.82921A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.640A>T
ENST00000682295.1:c.303+171A>T	ENSP00000507499.1:n.303+171A>T
ENST00000682303.1:c.*2874A>T	ENSP00000508325.1:n.*2874A>T
ENST00000682308.1:c.3088A>T	ENSP00000507056.1:p.Thr1030Ser
ENST00000682480.1:c.3106A>T	ENSP00000508344.1:p.Thr1036Ser
ENST00000682546.1:c.3085A>T	ENSP00000508188.1:p.Thr1029Ser
ENST00000682585.1:c.3088A>T	ENSP00000506885.1:p.Thr1030Ser
ENST00000682595.1:n.3672A>T
ENST00000682607.1:c.1506A>T
ENST00000682779.1:c.3079A>T	ENSP00000507947.1:p.Thr1027Ser
ENST00000682845.1:n.2190A>T
ENST00000682885.1:c.3043A>T	ENSP00000508036.1:p.Thr1015Ser
ENST00000682933.1:n.3162A>T
ENST00000683072.1:n.3672A>T
ENST00000683080.1:n.707A>T
ENST00000683125.1:c.3196A>T	ENSP00000507939.1:p.Thr1066Ser
ENST00000683213.1:c.3091A>T	ENSP00000507751.1:p.Thr1031Ser
ENST00000683220.1:c.3118A>T	ENSP00000507151.1:p.Thr1040Ser
ENST00000683329.1:n.3891A>T
ENST00000683346.1:c.*2963A>T	ENSP00000507458.1:n.*2963A>T
ENST00000683409.1:n.1695A>T
ENST00000683459.1:n.3675A>T
ENST00000683590.1:c.2897-5527A>T	ENSP00000506820.1:n.2897-5527A>T
ENST00000683623.1:c.2995A>T	ENSP00000507702.1:p.Thr999Ser
ENST00000683645.1:n.3639A>T
ENST00000683796.1:c.*2960A>T	ENSP00000508221.1:n.*2960A>T
ENST00000683802.1:n.6013A>T
ENST00000683833.1:c.3079A>T	ENSP00000506852.1:p.Thr1027Ser
ENST00000683994.1:c.3088A>T	ENSP00000507181.1:p.Thr1030Ser
ENST00000684290.1:c.*624A>T	ENSP00000507243.1:n.*624A>T
ENST00000684306.1:c.*3001A>T	ENSP00000508384.1:n.*3001A>T
ENST00000684341.1:n.3108A>T
ENST00000684383.1:c.*2726A>T	ENSP00000506863.1:n.*2726A>T
ENST00000684619.1:c.*2960A>T	ENSP00000508088.1:n.*2960A>T
ENST00000684705.1:n.209A>T
ENST00000684743.1:n.4119A>T
ENST00000260665.12:c.3088A>T MANE Select	ENSP00000260665.7:p.Thr1030Ser
ENST00000260665.11:c.3088A>T	ENSP00000260665.7:p.Thr1030Ser
NM_133259.3:c.3088A>T	NP_573566.2:p.Thr1030Ser
XM_006711915.2:c.3010A>T	XP_006711978.1:p.Thr1004Ser
XM_006711916.2:c.3088A>T	XP_006711979.1:p.Thr1030Ser
XM_011532473.1:c.3088A>T	XP_011530775.1:p.Thr1030Ser
XM_011532474.1:c.3088A>T	XP_011530776.1:p.Thr1030Ser
XM_006711916.3:c.3088A>T	XP_006711979.1:p.Thr1030Ser
XM_017003117.1:c.3010A>T	XP_016858606.1:p.Thr1004Ser
XR_002958896.1:n.3130A>T
NM_133259.4:c.3088A>T MANE Select	NP_573566.2:p.Thr1030Ser