Canonical Allele Identifier: CA346668128

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145220G>A (hg19) ; chr2:g.43918081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918081G>A , CM000664.2:g.43918081G>A	GRCh38
NC_000002.11:g.44145220G>A , CM000664.1:g.44145220G>A	GRCh37
NC_000002.10:g.43998724G>A	NCBI36
NG_008247.1:g.82925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.644C>T
ENST00000682295.1:c.303+175C>T	ENSP00000507499.1:n.303+175C>T
ENST00000682303.1:c.*2878C>T	ENSP00000508325.1:n.*2878C>T
ENST00000682308.1:c.3092C>T	ENSP00000507056.1:p.Thr1031Ile
ENST00000682480.1:c.3110C>T	ENSP00000508344.1:p.Thr1037Ile
ENST00000682546.1:c.3089C>T	ENSP00000508188.1:p.Thr1030Ile
ENST00000682585.1:c.3092C>T	ENSP00000506885.1:p.Thr1031Ile
ENST00000682595.1:n.3676C>T
ENST00000682607.1:c.1510C>T
ENST00000682779.1:c.3083C>T	ENSP00000507947.1:p.Thr1028Ile
ENST00000682845.1:n.2194C>T
ENST00000682885.1:c.3047C>T	ENSP00000508036.1:p.Thr1016Ile
ENST00000682933.1:n.3166C>T
ENST00000683072.1:n.3676C>T
ENST00000683080.1:n.711C>T
ENST00000683125.1:c.3200C>T	ENSP00000507939.1:p.Thr1067Ile
ENST00000683213.1:c.3095C>T	ENSP00000507751.1:p.Thr1032Ile
ENST00000683220.1:c.3122C>T	ENSP00000507151.1:p.Thr1041Ile
ENST00000683329.1:n.3895C>T
ENST00000683346.1:c.*2967C>T	ENSP00000507458.1:n.*2967C>T
ENST00000683409.1:n.1699C>T
ENST00000683459.1:n.3679C>T
ENST00000683590.1:c.2897-5523C>T	ENSP00000506820.1:n.2897-5523C>T
ENST00000683623.1:c.2999C>T	ENSP00000507702.1:p.Thr1000Ile
ENST00000683645.1:n.3643C>T
ENST00000683796.1:c.*2964C>T	ENSP00000508221.1:n.*2964C>T
ENST00000683802.1:n.6017C>T
ENST00000683833.1:c.3083C>T	ENSP00000506852.1:p.Thr1028Ile
ENST00000683994.1:c.3092C>T	ENSP00000507181.1:p.Thr1031Ile
ENST00000684290.1:c.*628C>T	ENSP00000507243.1:n.*628C>T
ENST00000684306.1:c.*3005C>T	ENSP00000508384.1:n.*3005C>T
ENST00000684341.1:n.3112C>T
ENST00000684383.1:c.*2730C>T	ENSP00000506863.1:n.*2730C>T
ENST00000684619.1:c.*2964C>T	ENSP00000508088.1:n.*2964C>T
ENST00000684705.1:n.213C>T
ENST00000684743.1:n.4123C>T
ENST00000260665.12:c.3092C>T MANE Select	ENSP00000260665.7:p.Thr1031Ile
ENST00000260665.11:c.3092C>T	ENSP00000260665.7:p.Thr1031Ile
NM_133259.3:c.3092C>T	NP_573566.2:p.Thr1031Ile
XM_006711915.2:c.3014C>T	XP_006711978.1:p.Thr1005Ile
XM_006711916.2:c.3092C>T	XP_006711979.1:p.Thr1031Ile
XM_011532473.1:c.3092C>T	XP_011530775.1:p.Thr1031Ile
XM_011532474.1:c.3092C>T	XP_011530776.1:p.Thr1031Ile
XM_006711916.3:c.3092C>T	XP_006711979.1:p.Thr1031Ile
XM_017003117.1:c.3014C>T	XP_016858606.1:p.Thr1005Ile
XR_002958896.1:n.3134C>T
NM_133259.4:c.3092C>T MANE Select	NP_573566.2:p.Thr1031Ile