Canonical Allele Identifier: CA346664951

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132858T>G (hg19) ; chr2:g.43905719T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905719T>G , CM000664.2:g.43905719T>G	GRCh38
NC_000002.11:g.44132858T>G , CM000664.1:g.44132858T>G	GRCh37
NC_000002.10:g.43986362T>G	NCBI36
NG_008247.1:g.95287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.416A>C
ENST00000681993.1:n.889A>C
ENST00000682295.1:c.492A>C	ENSP00000507499.1:n.492A>C
ENST00000682303.1:c.*3123A>C	ENSP00000508325.1:n.*3123A>C
ENST00000682308.1:c.3337A>C	ENSP00000507056.1:p.Thr1113Pro
ENST00000682480.1:c.3355A>C	ENSP00000508344.1:p.Thr1119Pro
ENST00000682546.1:c.3334A>C	ENSP00000508188.1:p.Thr1112Pro
ENST00000682585.1:c.3337A>C	ENSP00000506885.1:p.Thr1113Pro
ENST00000682595.1:n.3921A>C
ENST00000682607.1:c.1755A>C
ENST00000682612.1:c.189A>C
ENST00000682779.1:c.3328A>C	ENSP00000507947.1:p.Thr1110Pro
ENST00000682845.1:n.2439A>C
ENST00000682885.1:c.3292A>C	ENSP00000508036.1:p.Thr1098Pro
ENST00000682933.1:n.3411A>C
ENST00000683002.1:c.189A>C
ENST00000683072.1:n.3921A>C
ENST00000683080.1:n.956A>C
ENST00000683125.1:c.3445A>C	ENSP00000507939.1:p.Thr1149Pro
ENST00000683213.1:c.3340A>C	ENSP00000507751.1:p.Thr1114Pro
ENST00000683220.1:c.3367A>C	ENSP00000507151.1:p.Thr1123Pro
ENST00000683329.1:n.4140A>C
ENST00000683346.1:c.*3212A>C	ENSP00000507458.1:n.*3212A>C
ENST00000683409.1:n.1944A>C
ENST00000683459.1:n.3924A>C
ENST00000683528.1:c.189A>C
ENST00000683590.1:c.3085A>C	ENSP00000506820.1:p.Thr1029Pro
ENST00000683623.1:c.3244A>C	ENSP00000507702.1:p.Thr1082Pro
ENST00000683645.1:n.3888A>C
ENST00000683796.1:c.*3209A>C	ENSP00000508221.1:n.*3209A>C
ENST00000683802.1:n.6262A>C
ENST00000683833.1:c.3328A>C	ENSP00000506852.1:p.Thr1110Pro
ENST00000683994.1:c.3337A>C	ENSP00000507181.1:p.Thr1113Pro
ENST00000684290.1:c.*873A>C	ENSP00000507243.1:n.*873A>C
ENST00000684306.1:c.*3250A>C	ENSP00000508384.1:n.*3250A>C
ENST00000684341.1:n.3357A>C
ENST00000684383.1:c.*2975A>C	ENSP00000506863.1:n.*2975A>C
ENST00000684418.1:n.4518A>C
ENST00000684454.1:n.2687A>C
ENST00000684619.1:c.*3209A>C	ENSP00000508088.1:n.*3209A>C
ENST00000684743.1:n.4368A>C
ENST00000260665.12:c.3337A>C MANE Select	ENSP00000260665.7:p.Thr1113Pro
ENST00000260665.11:c.3337A>C	ENSP00000260665.7:p.Thr1113Pro
NM_133259.3:c.3337A>C	NP_573566.2:p.Thr1113Pro
XM_006711915.2:c.3259A>C	XP_006711978.1:p.Thr1087Pro
XM_011532473.1:c.3337A>C	XP_011530775.1:p.Thr1113Pro
XM_011532474.1:c.3337A>C	XP_011530776.1:p.Thr1113Pro
XM_017003117.1:c.3259A>C	XP_016858606.1:p.Thr1087Pro
XR_002958896.1:n.3379A>C
NM_133259.4:c.3337A>C MANE Select	NP_573566.2:p.Thr1113Pro