Canonical Allele Identifier: CA346668264

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918112-G-A
• MyVariant Identifiers: chr2:g.44145251G>A (hg19) ; chr2:g.43918112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918112G>A , CM000664.2:g.43918112G>A	GRCh38
NC_000002.11:g.44145251G>A , CM000664.1:g.44145251G>A	GRCh37
NC_000002.10:g.43998755G>A	NCBI36
NG_008247.1:g.82894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.613C>T
ENST00000682295.1:c.303+144C>T	ENSP00000507499.1:n.303+144C>T
ENST00000682303.1:c.*2847C>T	ENSP00000508325.1:n.*2847C>T
ENST00000682308.1:c.3061C>T	ENSP00000507056.1:p.His1021Tyr
ENST00000682480.1:c.3079C>T	ENSP00000508344.1:p.His1027Tyr
ENST00000682546.1:c.3058C>T	ENSP00000508188.1:p.His1020Tyr
ENST00000682585.1:c.3061C>T	ENSP00000506885.1:p.His1021Tyr
ENST00000682595.1:n.3645C>T
ENST00000682607.1:c.1479C>T
ENST00000682779.1:c.3052C>T	ENSP00000507947.1:p.His1018Tyr
ENST00000682845.1:n.2163C>T
ENST00000682885.1:c.3016C>T	ENSP00000508036.1:p.His1006Tyr
ENST00000682933.1:n.3135C>T
ENST00000683072.1:n.3645C>T
ENST00000683080.1:n.680C>T
ENST00000683125.1:c.3169C>T	ENSP00000507939.1:p.His1057Tyr
ENST00000683213.1:c.3064C>T	ENSP00000507751.1:p.His1022Tyr
ENST00000683220.1:c.3091C>T	ENSP00000507151.1:p.His1031Tyr
ENST00000683329.1:n.3864C>T
ENST00000683346.1:c.*2936C>T	ENSP00000507458.1:n.*2936C>T
ENST00000683409.1:n.1668C>T
ENST00000683459.1:n.3648C>T
ENST00000683590.1:c.2897-5554C>T	ENSP00000506820.1:n.2897-5554C>T
ENST00000683623.1:c.2968C>T	ENSP00000507702.1:p.His990Tyr
ENST00000683645.1:n.3612C>T
ENST00000683796.1:c.*2933C>T	ENSP00000508221.1:n.*2933C>T
ENST00000683802.1:n.5986C>T
ENST00000683833.1:c.3052C>T	ENSP00000506852.1:p.His1018Tyr
ENST00000683994.1:c.3061C>T	ENSP00000507181.1:p.His1021Tyr
ENST00000684290.1:c.*597C>T	ENSP00000507243.1:n.*597C>T
ENST00000684306.1:c.*2974C>T	ENSP00000508384.1:n.*2974C>T
ENST00000684341.1:n.3081C>T
ENST00000684383.1:c.*2699C>T	ENSP00000506863.1:n.*2699C>T
ENST00000684619.1:c.*2933C>T	ENSP00000508088.1:n.*2933C>T
ENST00000684705.1:n.182C>T
ENST00000684743.1:n.4092C>T
ENST00000260665.12:c.3061C>T MANE Select	ENSP00000260665.7:p.His1021Tyr
ENST00000260665.11:c.3061C>T	ENSP00000260665.7:p.His1021Tyr
NM_133259.3:c.3061C>T	NP_573566.2:p.His1021Tyr
XM_006711915.2:c.2983C>T	XP_006711978.1:p.His995Tyr
XM_006711916.2:c.3061C>T	XP_006711979.1:p.His1021Tyr
XM_011532473.1:c.3061C>T	XP_011530775.1:p.His1021Tyr
XM_011532474.1:c.3061C>T	XP_011530776.1:p.His1021Tyr
XM_006711916.3:c.3061C>T	XP_006711979.1:p.His1021Tyr
XM_017003117.1:c.2983C>T	XP_016858606.1:p.His995Tyr
XR_002958896.1:n.3103C>T
NM_133259.4:c.3061C>T MANE Select	NP_573566.2:p.His1021Tyr