Canonical Allele Identifier: CA346664839

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132834T>G (hg19) ; chr2:g.43905695T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905695T>G , CM000664.2:g.43905695T>G	GRCh38
NC_000002.11:g.44132834T>G , CM000664.1:g.44132834T>G	GRCh37
NC_000002.10:g.43986338T>G	NCBI36
NG_008247.1:g.95311A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472420.6:n.440A>C
ENST00000681993.1:n.913A>C
ENST00000682295.1:c.516A>C	ENSP00000507499.1:n.516A>C
ENST00000682303.1:c.*3147A>C	ENSP00000508325.1:n.*3147A>C
ENST00000682308.1:c.3361A>C	ENSP00000507056.1:p.Lys1121Gln
ENST00000682480.1:c.3379A>C	ENSP00000508344.1:p.Lys1127Gln
ENST00000682546.1:c.3358A>C	ENSP00000508188.1:p.Lys1120Gln
ENST00000682585.1:c.3361A>C	ENSP00000506885.1:p.Lys1121Gln
ENST00000682595.1:n.3945A>C
ENST00000682607.1:c.1779A>C
ENST00000682612.1:c.213A>C
ENST00000682779.1:c.3352A>C	ENSP00000507947.1:p.Lys1118Gln
ENST00000682845.1:n.2463A>C
ENST00000682885.1:c.3316A>C	ENSP00000508036.1:p.Lys1106Gln
ENST00000682933.1:n.3435A>C
ENST00000683002.1:c.213A>C
ENST00000683072.1:n.3945A>C
ENST00000683080.1:n.980A>C
ENST00000683125.1:c.3469A>C	ENSP00000507939.1:p.Lys1157Gln
ENST00000683213.1:c.3364A>C	ENSP00000507751.1:p.Lys1122Gln
ENST00000683220.1:c.3391A>C	ENSP00000507151.1:p.Lys1131Gln
ENST00000683329.1:n.4164A>C
ENST00000683346.1:c.*3236A>C	ENSP00000507458.1:n.*3236A>C
ENST00000683409.1:n.1968A>C
ENST00000683459.1:n.3948A>C
ENST00000683528.1:c.213A>C
ENST00000683590.1:c.3109A>C	ENSP00000506820.1:p.Lys1037Gln
ENST00000683623.1:c.3268A>C	ENSP00000507702.1:p.Lys1090Gln
ENST00000683645.1:n.3912A>C
ENST00000683796.1:c.*3233A>C	ENSP00000508221.1:n.*3233A>C
ENST00000683802.1:n.6286A>C
ENST00000683833.1:c.3352A>C	ENSP00000506852.1:p.Lys1118Gln
ENST00000683994.1:c.3361A>C	ENSP00000507181.1:p.Lys1121Gln
ENST00000684290.1:c.*897A>C	ENSP00000507243.1:n.*897A>C
ENST00000684306.1:c.*3274A>C	ENSP00000508384.1:n.*3274A>C
ENST00000684341.1:n.3381A>C
ENST00000684383.1:c.*2999A>C	ENSP00000506863.1:n.*2999A>C
ENST00000684418.1:n.4542A>C
ENST00000684454.1:n.2711A>C
ENST00000684619.1:c.*3233A>C	ENSP00000508088.1:n.*3233A>C
ENST00000684743.1:n.4392A>C
ENST00000260665.12:c.3361A>C MANE Select	ENSP00000260665.7:p.Lys1121Gln
ENST00000260665.11:c.3361A>C	ENSP00000260665.7:p.Lys1121Gln
NM_133259.3:c.3361A>C	NP_573566.2:p.Lys1121Gln
XM_006711915.2:c.3283A>C	XP_006711978.1:p.Lys1095Gln
XM_011532473.1:c.3361A>C	XP_011530775.1:p.Lys1121Gln
XM_011532474.1:c.3361A>C	XP_011530776.1:p.Lys1121Gln
XM_017003117.1:c.3283A>C	XP_016858606.1:p.Lys1095Gln
XR_002958896.1:n.3403A>C
NM_133259.4:c.3361A>C MANE Select	NP_573566.2:p.Lys1121Gln