Canonical Allele Identifier: CA346664905

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905710-T-A
• MyVariant Identifiers: chr2:g.44132849T>A (hg19) ; chr2:g.43905710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905710T>A , CM000664.2:g.43905710T>A	GRCh38
NC_000002.11:g.44132849T>A , CM000664.1:g.44132849T>A	GRCh37
NC_000002.10:g.43986353T>A	NCBI36
NG_008247.1:g.95296A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.425A>T
ENST00000681993.1:n.898A>T
ENST00000682295.1:c.501A>T	ENSP00000507499.1:n.501A>T
ENST00000682303.1:c.*3132A>T	ENSP00000508325.1:n.*3132A>T
ENST00000682308.1:c.3346A>T	ENSP00000507056.1:p.Arg1116Trp
ENST00000682480.1:c.3364A>T	ENSP00000508344.1:p.Arg1122Trp
ENST00000682546.1:c.3343A>T	ENSP00000508188.1:p.Arg1115Trp
ENST00000682585.1:c.3346A>T	ENSP00000506885.1:p.Arg1116Trp
ENST00000682595.1:n.3930A>T
ENST00000682607.1:c.1764A>T
ENST00000682612.1:c.198A>T
ENST00000682779.1:c.3337A>T	ENSP00000507947.1:p.Arg1113Trp
ENST00000682845.1:n.2448A>T
ENST00000682885.1:c.3301A>T	ENSP00000508036.1:p.Arg1101Trp
ENST00000682933.1:n.3420A>T
ENST00000683002.1:c.198A>T
ENST00000683072.1:n.3930A>T
ENST00000683080.1:n.965A>T
ENST00000683125.1:c.3454A>T	ENSP00000507939.1:p.Arg1152Trp
ENST00000683213.1:c.3349A>T	ENSP00000507751.1:p.Arg1117Trp
ENST00000683220.1:c.3376A>T	ENSP00000507151.1:p.Arg1126Trp
ENST00000683329.1:n.4149A>T
ENST00000683346.1:c.*3221A>T	ENSP00000507458.1:n.*3221A>T
ENST00000683409.1:n.1953A>T
ENST00000683459.1:n.3933A>T
ENST00000683528.1:c.198A>T
ENST00000683590.1:c.3094A>T	ENSP00000506820.1:p.Arg1032Trp
ENST00000683623.1:c.3253A>T	ENSP00000507702.1:p.Arg1085Trp
ENST00000683645.1:n.3897A>T
ENST00000683796.1:c.*3218A>T	ENSP00000508221.1:n.*3218A>T
ENST00000683802.1:n.6271A>T
ENST00000683833.1:c.3337A>T	ENSP00000506852.1:p.Arg1113Trp
ENST00000683994.1:c.3346A>T	ENSP00000507181.1:p.Arg1116Trp
ENST00000684290.1:c.*882A>T	ENSP00000507243.1:n.*882A>T
ENST00000684306.1:c.*3259A>T	ENSP00000508384.1:n.*3259A>T
ENST00000684341.1:n.3366A>T
ENST00000684383.1:c.*2984A>T	ENSP00000506863.1:n.*2984A>T
ENST00000684418.1:n.4527A>T
ENST00000684454.1:n.2696A>T
ENST00000684619.1:c.*3218A>T	ENSP00000508088.1:n.*3218A>T
ENST00000684743.1:n.4377A>T
ENST00000260665.12:c.3346A>T MANE Select	ENSP00000260665.7:p.Arg1116Trp
ENST00000260665.11:c.3346A>T	ENSP00000260665.7:p.Arg1116Trp
NM_133259.3:c.3346A>T	NP_573566.2:p.Arg1116Trp
XM_006711915.2:c.3268A>T	XP_006711978.1:p.Arg1090Trp
XM_011532473.1:c.3346A>T	XP_011530775.1:p.Arg1116Trp
XM_011532474.1:c.3346A>T	XP_011530776.1:p.Arg1116Trp
XM_017003117.1:c.3268A>T	XP_016858606.1:p.Arg1090Trp
XR_002958896.1:n.3388A>T
NM_133259.4:c.3346A>T MANE Select	NP_573566.2:p.Arg1116Trp