Canonical Allele Identifier: CA346668173

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918091-C-T
• MyVariant Identifiers: chr2:g.44145230C>T (hg19) ; chr2:g.43918091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918091C>T , CM000664.2:g.43918091C>T	GRCh38
NC_000002.11:g.44145230C>T , CM000664.1:g.44145230C>T	GRCh37
NC_000002.10:g.43998734C>T	NCBI36
NG_008247.1:g.82915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.634G>A
ENST00000682295.1:c.303+165G>A	ENSP00000507499.1:n.303+165G>A
ENST00000682303.1:c.*2868G>A	ENSP00000508325.1:n.*2868G>A
ENST00000682308.1:c.3082G>A	ENSP00000507056.1:p.Ala1028Thr
ENST00000682480.1:c.3100G>A	ENSP00000508344.1:p.Ala1034Thr
ENST00000682546.1:c.3079G>A	ENSP00000508188.1:p.Ala1027Thr
ENST00000682585.1:c.3082G>A	ENSP00000506885.1:p.Ala1028Thr
ENST00000682595.1:n.3666G>A
ENST00000682607.1:c.1500G>A
ENST00000682779.1:c.3073G>A	ENSP00000507947.1:p.Ala1025Thr
ENST00000682845.1:n.2184G>A
ENST00000682885.1:c.3037G>A	ENSP00000508036.1:p.Ala1013Thr
ENST00000682933.1:n.3156G>A
ENST00000683072.1:n.3666G>A
ENST00000683080.1:n.701G>A
ENST00000683125.1:c.3190G>A	ENSP00000507939.1:p.Ala1064Thr
ENST00000683213.1:c.3085G>A	ENSP00000507751.1:p.Ala1029Thr
ENST00000683220.1:c.3112G>A	ENSP00000507151.1:p.Ala1038Thr
ENST00000683329.1:n.3885G>A
ENST00000683346.1:c.*2957G>A	ENSP00000507458.1:n.*2957G>A
ENST00000683409.1:n.1689G>A
ENST00000683459.1:n.3669G>A
ENST00000683590.1:c.2897-5533G>A	ENSP00000506820.1:n.2897-5533G>A
ENST00000683623.1:c.2989G>A	ENSP00000507702.1:p.Ala997Thr
ENST00000683645.1:n.3633G>A
ENST00000683796.1:c.*2954G>A	ENSP00000508221.1:n.*2954G>A
ENST00000683802.1:n.6007G>A
ENST00000683833.1:c.3073G>A	ENSP00000506852.1:p.Ala1025Thr
ENST00000683994.1:c.3082G>A	ENSP00000507181.1:p.Ala1028Thr
ENST00000684290.1:c.*618G>A	ENSP00000507243.1:n.*618G>A
ENST00000684306.1:c.*2995G>A	ENSP00000508384.1:n.*2995G>A
ENST00000684341.1:n.3102G>A
ENST00000684383.1:c.*2720G>A	ENSP00000506863.1:n.*2720G>A
ENST00000684619.1:c.*2954G>A	ENSP00000508088.1:n.*2954G>A
ENST00000684705.1:n.203G>A
ENST00000684743.1:n.4113G>A
ENST00000260665.12:c.3082G>A MANE Select	ENSP00000260665.7:p.Ala1028Thr
ENST00000260665.11:c.3082G>A	ENSP00000260665.7:p.Ala1028Thr
NM_133259.3:c.3082G>A	NP_573566.2:p.Ala1028Thr
XM_006711915.2:c.3004G>A	XP_006711978.1:p.Ala1002Thr
XM_006711916.2:c.3082G>A	XP_006711979.1:p.Ala1028Thr
XM_011532473.1:c.3082G>A	XP_011530775.1:p.Ala1028Thr
XM_011532474.1:c.3082G>A	XP_011530776.1:p.Ala1028Thr
XM_006711916.3:c.3082G>A	XP_006711979.1:p.Ala1028Thr
XM_017003117.1:c.3004G>A	XP_016858606.1:p.Ala1002Thr
XR_002958896.1:n.3124G>A
NM_133259.4:c.3082G>A MANE Select	NP_573566.2:p.Ala1028Thr