Canonical Allele Identifier: CA346668027

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918061-C-T
• MyVariant Identifiers: chr2:g.44145200C>T (hg19) ; chr2:g.43918061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918061C>T , CM000664.2:g.43918061C>T	GRCh38
NC_000002.11:g.44145200C>T , CM000664.1:g.44145200C>T	GRCh37
NC_000002.10:g.43998704C>T	NCBI36
NG_008247.1:g.82945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.664G>A
ENST00000682295.1:c.303+195G>A	ENSP00000507499.1:n.303+195G>A
ENST00000682303.1:c.*2898G>A	ENSP00000508325.1:n.*2898G>A
ENST00000682308.1:c.3112G>A	ENSP00000507056.1:p.Asp1038Asn
ENST00000682480.1:c.3130G>A	ENSP00000508344.1:p.Asp1044Asn
ENST00000682546.1:c.3109G>A	ENSP00000508188.1:p.Asp1037Asn
ENST00000682585.1:c.3112G>A	ENSP00000506885.1:p.Asp1038Asn
ENST00000682595.1:n.3696G>A
ENST00000682607.1:c.1530G>A
ENST00000682779.1:c.3103G>A	ENSP00000507947.1:p.Asp1035Asn
ENST00000682845.1:n.2214G>A
ENST00000682885.1:c.3067G>A	ENSP00000508036.1:p.Asp1023Asn
ENST00000682933.1:n.3186G>A
ENST00000683072.1:n.3696G>A
ENST00000683080.1:n.731G>A
ENST00000683125.1:c.3220G>A	ENSP00000507939.1:p.Asp1074Asn
ENST00000683213.1:c.3115G>A	ENSP00000507751.1:p.Asp1039Asn
ENST00000683220.1:c.3142G>A	ENSP00000507151.1:p.Asp1048Asn
ENST00000683329.1:n.3915G>A
ENST00000683346.1:c.*2987G>A	ENSP00000507458.1:n.*2987G>A
ENST00000683409.1:n.1719G>A
ENST00000683459.1:n.3699G>A
ENST00000683590.1:c.2897-5503G>A	ENSP00000506820.1:n.2897-5503G>A
ENST00000683623.1:c.3019G>A	ENSP00000507702.1:p.Asp1007Asn
ENST00000683645.1:n.3663G>A
ENST00000683796.1:c.*2984G>A	ENSP00000508221.1:n.*2984G>A
ENST00000683802.1:n.6037G>A
ENST00000683833.1:c.3103G>A	ENSP00000506852.1:p.Asp1035Asn
ENST00000683994.1:c.3112G>A	ENSP00000507181.1:p.Asp1038Asn
ENST00000684290.1:c.*648G>A	ENSP00000507243.1:n.*648G>A
ENST00000684306.1:c.*3025G>A	ENSP00000508384.1:n.*3025G>A
ENST00000684341.1:n.3132G>A
ENST00000684383.1:c.*2750G>A	ENSP00000506863.1:n.*2750G>A
ENST00000684619.1:c.*2984G>A	ENSP00000508088.1:n.*2984G>A
ENST00000684705.1:n.233G>A
ENST00000684743.1:n.4143G>A
ENST00000260665.12:c.3112G>A MANE Select	ENSP00000260665.7:p.Asp1038Asn
ENST00000260665.11:c.3112G>A	ENSP00000260665.7:p.Asp1038Asn
NM_133259.3:c.3112G>A	NP_573566.2:p.Asp1038Asn
XM_006711915.2:c.3034G>A	XP_006711978.1:p.Asp1012Asn
XM_006711916.2:c.3112G>A	XP_006711979.1:p.Asp1038Asn
XM_011532473.1:c.3112G>A	XP_011530775.1:p.Asp1038Asn
XM_011532474.1:c.3112G>A	XP_011530776.1:p.Asp1038Asn
XM_006711916.3:c.3112G>A	XP_006711979.1:p.Asp1038Asn
XM_017003117.1:c.3034G>A	XP_016858606.1:p.Asp1012Asn
XR_002958896.1:n.3154G>A
NM_133259.4:c.3112G>A MANE Select	NP_573566.2:p.Asp1038Asn