Canonical Allele Identifier: CA346667865

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145167T>A (hg19) ; chr2:g.43918028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918028T>A , CM000664.2:g.43918028T>A	GRCh38
NC_000002.11:g.44145167T>A , CM000664.1:g.44145167T>A	GRCh37
NC_000002.10:g.43998671T>A	NCBI36
NG_008247.1:g.82978A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.697A>T
ENST00000682295.1:c.303+228A>T	ENSP00000507499.1:n.303+228A>T
ENST00000682303.1:c.*2931A>T	ENSP00000508325.1:n.*2931A>T
ENST00000682308.1:c.3145A>T	ENSP00000507056.1:p.Lys1049Ter
ENST00000682480.1:c.3163A>T	ENSP00000508344.1:p.Lys1055Ter
ENST00000682546.1:c.3142A>T	ENSP00000508188.1:p.Lys1048Ter
ENST00000682585.1:c.3145A>T	ENSP00000506885.1:p.Lys1049Ter
ENST00000682595.1:n.3729A>T
ENST00000682607.1:c.1563A>T
ENST00000682779.1:c.3136A>T	ENSP00000507947.1:p.Lys1046Ter
ENST00000682845.1:n.2247A>T
ENST00000682885.1:c.3100A>T	ENSP00000508036.1:p.Lys1034Ter
ENST00000682933.1:n.3219A>T
ENST00000683072.1:n.3729A>T
ENST00000683080.1:n.764A>T
ENST00000683125.1:c.3253A>T	ENSP00000507939.1:p.Lys1085Ter
ENST00000683213.1:c.3148A>T	ENSP00000507751.1:p.Lys1050Ter
ENST00000683220.1:c.3175A>T	ENSP00000507151.1:p.Lys1059Ter
ENST00000683329.1:n.3948A>T
ENST00000683346.1:c.*3020A>T	ENSP00000507458.1:n.*3020A>T
ENST00000683409.1:n.1752A>T
ENST00000683459.1:n.3732A>T
ENST00000683590.1:c.2897-5470A>T	ENSP00000506820.1:n.2897-5470A>T
ENST00000683623.1:c.3052A>T	ENSP00000507702.1:p.Lys1018Ter
ENST00000683645.1:n.3696A>T
ENST00000683796.1:c.*3017A>T	ENSP00000508221.1:n.*3017A>T
ENST00000683802.1:n.6070A>T
ENST00000683833.1:c.3136A>T	ENSP00000506852.1:p.Lys1046Ter
ENST00000683994.1:c.3145A>T	ENSP00000507181.1:p.Lys1049Ter
ENST00000684290.1:c.*681A>T	ENSP00000507243.1:n.*681A>T
ENST00000684306.1:c.*3058A>T	ENSP00000508384.1:n.*3058A>T
ENST00000684341.1:n.3165A>T
ENST00000684383.1:c.*2783A>T	ENSP00000506863.1:n.*2783A>T
ENST00000684619.1:c.*3017A>T	ENSP00000508088.1:n.*3017A>T
ENST00000684705.1:n.266A>T
ENST00000684743.1:n.4176A>T
ENST00000260665.12:c.3145A>T MANE Select	ENSP00000260665.7:p.Lys1049Ter
ENST00000260665.11:c.3145A>T	ENSP00000260665.7:p.Lys1049Ter
NM_133259.3:c.3145A>T	NP_573566.2:p.Lys1049Ter
XM_006711915.2:c.3067A>T	XP_006711978.1:p.Lys1023Ter
XM_006711916.2:c.3145A>T	XP_006711979.1:p.Lys1049Ter
XM_011532473.1:c.3145A>T	XP_011530775.1:p.Lys1049Ter
XM_011532474.1:c.3145A>T	XP_011530776.1:p.Lys1049Ter
XM_006711916.3:c.3145A>T	XP_006711979.1:p.Lys1049Ter
XM_017003117.1:c.3067A>T	XP_016858606.1:p.Lys1023Ter
XR_002958896.1:n.3187A>T
NM_133259.4:c.3145A>T MANE Select	NP_573566.2:p.Lys1049Ter