Canonical Allele Identifier: CA346665072

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132894T>A (hg19) ; chr2:g.43905755T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905755T>A , CM000664.2:g.43905755T>A	GRCh38
NC_000002.11:g.44132894T>A , CM000664.1:g.44132894T>A	GRCh37
NC_000002.10:g.43986398T>A	NCBI36
NG_008247.1:g.95251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.380A>T
ENST00000681993.1:n.853A>T
ENST00000682295.1:c.456A>T	ENSP00000507499.1:n.456A>T
ENST00000682303.1:c.*3087A>T	ENSP00000508325.1:n.*3087A>T
ENST00000682308.1:c.3301A>T	ENSP00000507056.1:p.Thr1101Ser
ENST00000682480.1:c.3319A>T	ENSP00000508344.1:p.Thr1107Ser
ENST00000682546.1:c.3298A>T	ENSP00000508188.1:p.Thr1100Ser
ENST00000682585.1:c.3301A>T	ENSP00000506885.1:p.Thr1101Ser
ENST00000682595.1:n.3885A>T
ENST00000682607.1:c.1719A>T
ENST00000682612.1:c.153A>T
ENST00000682779.1:c.3292A>T	ENSP00000507947.1:p.Thr1098Ser
ENST00000682845.1:n.2403A>T
ENST00000682885.1:c.3256A>T	ENSP00000508036.1:p.Thr1086Ser
ENST00000682933.1:n.3375A>T
ENST00000683002.1:c.153A>T
ENST00000683072.1:n.3885A>T
ENST00000683080.1:n.920A>T
ENST00000683125.1:c.3409A>T	ENSP00000507939.1:p.Thr1137Ser
ENST00000683213.1:c.3304A>T	ENSP00000507751.1:p.Thr1102Ser
ENST00000683220.1:c.3331A>T	ENSP00000507151.1:p.Thr1111Ser
ENST00000683329.1:n.4104A>T
ENST00000683346.1:c.*3176A>T	ENSP00000507458.1:n.*3176A>T
ENST00000683409.1:n.1908A>T
ENST00000683459.1:n.3888A>T
ENST00000683528.1:c.153A>T
ENST00000683590.1:c.3049A>T	ENSP00000506820.1:p.Thr1017Ser
ENST00000683623.1:c.3208A>T	ENSP00000507702.1:p.Thr1070Ser
ENST00000683645.1:n.3852A>T
ENST00000683796.1:c.*3173A>T	ENSP00000508221.1:n.*3173A>T
ENST00000683802.1:n.6226A>T
ENST00000683833.1:c.3292A>T	ENSP00000506852.1:p.Thr1098Ser
ENST00000683994.1:c.3301A>T	ENSP00000507181.1:p.Thr1101Ser
ENST00000684290.1:c.*837A>T	ENSP00000507243.1:n.*837A>T
ENST00000684306.1:c.*3214A>T	ENSP00000508384.1:n.*3214A>T
ENST00000684341.1:n.3321A>T
ENST00000684383.1:c.*2939A>T	ENSP00000506863.1:n.*2939A>T
ENST00000684418.1:n.4482A>T
ENST00000684454.1:n.2651A>T
ENST00000684619.1:c.*3173A>T	ENSP00000508088.1:n.*3173A>T
ENST00000684743.1:n.4332A>T
ENST00000260665.12:c.3301A>T MANE Select	ENSP00000260665.7:p.Thr1101Ser
ENST00000260665.11:c.3301A>T	ENSP00000260665.7:p.Thr1101Ser
NM_133259.3:c.3301A>T	NP_573566.2:p.Thr1101Ser
XM_006711915.2:c.3223A>T	XP_006711978.1:p.Thr1075Ser
XM_011532473.1:c.3301A>T	XP_011530775.1:p.Thr1101Ser
XM_011532474.1:c.3301A>T	XP_011530776.1:p.Thr1101Ser
XM_017003117.1:c.3223A>T	XP_016858606.1:p.Thr1075Ser
XR_002958896.1:n.3343A>T
NM_133259.4:c.3301A>T MANE Select	NP_573566.2:p.Thr1101Ser