Canonical Allele Identifier: CA346668605

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145498T>A (hg19) ; chr2:g.43918359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918359T>A , CM000664.2:g.43918359T>A	GRCh38
NC_000002.11:g.44145498T>A , CM000664.1:g.44145498T>A	GRCh37
NC_000002.10:g.43999002T>A	NCBI36
NG_008247.1:g.82647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.488A>T
ENST00000682295.1:c.200A>T	ENSP00000507499.1:p.Asn67Ile
ENST00000682303.1:c.*2722A>T	ENSP00000508325.1:n.*2722A>T
ENST00000682308.1:c.2936A>T	ENSP00000507056.1:p.Asn979Ile
ENST00000682480.1:c.2936A>T	ENSP00000508344.1:p.Asn979Ile
ENST00000682546.1:c.2933A>T	ENSP00000508188.1:p.Asn978Ile
ENST00000682585.1:c.2936A>T	ENSP00000506885.1:p.Asn979Ile
ENST00000682595.1:n.3520A>T
ENST00000682607.1:c.1354A>T
ENST00000682779.1:c.2927A>T	ENSP00000507947.1:p.Asn976Ile
ENST00000682845.1:n.2038A>T
ENST00000682885.1:c.2891A>T	ENSP00000508036.1:p.Asn964Ile
ENST00000682933.1:n.3010A>T
ENST00000683072.1:n.3520A>T
ENST00000683080.1:n.555A>T
ENST00000683125.1:c.3044A>T	ENSP00000507939.1:p.Asn1015Ile
ENST00000683213.1:c.2939A>T	ENSP00000507751.1:p.Asn980Ile
ENST00000683220.1:c.2966A>T	ENSP00000507151.1:p.Asn989Ile
ENST00000683236.1:c.266A>T	ENSP00000506891.1:n.266A>T
ENST00000683329.1:n.3739A>T
ENST00000683346.1:c.*2811A>T	ENSP00000507458.1:n.*2811A>T
ENST00000683409.1:n.1543A>T
ENST00000683459.1:n.3523A>T
ENST00000683590.1:c.2897-5801A>T	ENSP00000506820.1:n.2897-5801A>T
ENST00000683623.1:c.2843A>T	ENSP00000507702.1:p.Asn948Ile
ENST00000683645.1:n.3487A>T
ENST00000683796.1:c.*2808A>T	ENSP00000508221.1:n.*2808A>T
ENST00000683802.1:n.5861A>T
ENST00000683833.1:c.2927A>T	ENSP00000506852.1:p.Asn976Ile
ENST00000683994.1:c.2936A>T	ENSP00000507181.1:p.Asn979Ile
ENST00000684290.1:c.*472A>T	ENSP00000507243.1:n.*472A>T
ENST00000684306.1:c.*2849A>T	ENSP00000508384.1:n.*2849A>T
ENST00000684341.1:n.2956A>T
ENST00000684383.1:c.*2574A>T	ENSP00000506863.1:n.*2574A>T
ENST00000684619.1:c.*2808A>T	ENSP00000508088.1:n.*2808A>T
ENST00000684705.1:n.57A>T
ENST00000684743.1:n.3967A>T
ENST00000260665.12:c.2936A>T MANE Select	ENSP00000260665.7:p.Asn979Ile
ENST00000260665.11:c.2936A>T	ENSP00000260665.7:p.Asn979Ile
NM_133259.3:c.2936A>T	NP_573566.2:p.Asn979Ile
XM_006711915.2:c.2858A>T	XP_006711978.1:p.Asn953Ile
XM_006711916.2:c.2936A>T	XP_006711979.1:p.Asn979Ile
XM_011532473.1:c.2936A>T	XP_011530775.1:p.Asn979Ile
XM_011532474.1:c.2936A>T	XP_011530776.1:p.Asn979Ile
XM_006711916.3:c.2936A>T	XP_006711979.1:p.Asn979Ile
XM_017003117.1:c.2858A>T	XP_016858606.1:p.Asn953Ile
XR_002958896.1:n.2978A>T
NM_133259.4:c.2936A>T MANE Select	NP_573566.2:p.Asn979Ile