Canonical Allele Identifier: CA346667885

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145170T>G (hg19) ; chr2:g.43918031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918031T>G , CM000664.2:g.43918031T>G	GRCh38
NC_000002.11:g.44145170T>G , CM000664.1:g.44145170T>G	GRCh37
NC_000002.10:g.43998674T>G	NCBI36
NG_008247.1:g.82975A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.694A>C
ENST00000682295.1:c.303+225A>C	ENSP00000507499.1:n.303+225A>C
ENST00000682303.1:c.*2928A>C	ENSP00000508325.1:n.*2928A>C
ENST00000682308.1:c.3142A>C	ENSP00000507056.1:p.Lys1048Gln
ENST00000682480.1:c.3160A>C	ENSP00000508344.1:p.Lys1054Gln
ENST00000682546.1:c.3139A>C	ENSP00000508188.1:p.Lys1047Gln
ENST00000682585.1:c.3142A>C	ENSP00000506885.1:p.Lys1048Gln
ENST00000682595.1:n.3726A>C
ENST00000682607.1:c.1560A>C
ENST00000682779.1:c.3133A>C	ENSP00000507947.1:p.Lys1045Gln
ENST00000682845.1:n.2244A>C
ENST00000682885.1:c.3097A>C	ENSP00000508036.1:p.Lys1033Gln
ENST00000682933.1:n.3216A>C
ENST00000683072.1:n.3726A>C
ENST00000683080.1:n.761A>C
ENST00000683125.1:c.3250A>C	ENSP00000507939.1:p.Lys1084Gln
ENST00000683213.1:c.3145A>C	ENSP00000507751.1:p.Lys1049Gln
ENST00000683220.1:c.3172A>C	ENSP00000507151.1:p.Lys1058Gln
ENST00000683329.1:n.3945A>C
ENST00000683346.1:c.*3017A>C	ENSP00000507458.1:n.*3017A>C
ENST00000683409.1:n.1749A>C
ENST00000683459.1:n.3729A>C
ENST00000683590.1:c.2897-5473A>C	ENSP00000506820.1:n.2897-5473A>C
ENST00000683623.1:c.3049A>C	ENSP00000507702.1:p.Lys1017Gln
ENST00000683645.1:n.3693A>C
ENST00000683796.1:c.*3014A>C	ENSP00000508221.1:n.*3014A>C
ENST00000683802.1:n.6067A>C
ENST00000683833.1:c.3133A>C	ENSP00000506852.1:p.Lys1045Gln
ENST00000683994.1:c.3142A>C	ENSP00000507181.1:p.Lys1048Gln
ENST00000684290.1:c.*678A>C	ENSP00000507243.1:n.*678A>C
ENST00000684306.1:c.*3055A>C	ENSP00000508384.1:n.*3055A>C
ENST00000684341.1:n.3162A>C
ENST00000684383.1:c.*2780A>C	ENSP00000506863.1:n.*2780A>C
ENST00000684619.1:c.*3014A>C	ENSP00000508088.1:n.*3014A>C
ENST00000684705.1:n.263A>C
ENST00000684743.1:n.4173A>C
ENST00000260665.12:c.3142A>C MANE Select	ENSP00000260665.7:p.Lys1048Gln
ENST00000260665.11:c.3142A>C	ENSP00000260665.7:p.Lys1048Gln
NM_133259.3:c.3142A>C	NP_573566.2:p.Lys1048Gln
XM_006711915.2:c.3064A>C	XP_006711978.1:p.Lys1022Gln
XM_006711916.2:c.3142A>C	XP_006711979.1:p.Lys1048Gln
XM_011532473.1:c.3142A>C	XP_011530775.1:p.Lys1048Gln
XM_011532474.1:c.3142A>C	XP_011530776.1:p.Lys1048Gln
XM_006711916.3:c.3142A>C	XP_006711979.1:p.Lys1048Gln
XM_017003117.1:c.3064A>C	XP_016858606.1:p.Lys1022Gln
XR_002958896.1:n.3184A>C
NM_133259.4:c.3142A>C MANE Select	NP_573566.2:p.Lys1048Gln