Canonical Allele Identifier: CA1638109

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2202547
• ClinVar RCV Id: RCV002630007
• dbSNP Id: rs757273350
• ExAC: 2:44132919 G / A
• gnomAD v2: 2-44132919-G-A
• gnomAD v4: 2-43905780-G-A
• MyVariant Identifiers: chr2:g.44132919G>A (hg19) ; chr2:g.43905780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905780G>A , CM000664.2:g.43905780G>A	GRCh38
NC_000002.11:g.44132919G>A , CM000664.1:g.44132919G>A	GRCh37
NC_000002.10:g.43986423G>A	NCBI36
NG_008247.1:g.95226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.355C>T
ENST00000681993.1:n.828C>T
ENST00000682295.1:c.431C>T	ENSP00000507499.1:n.431C>T
ENST00000682303.1:c.*3062C>T	ENSP00000508325.1:n.*3062C>T
ENST00000682308.1:c.3276C>T	ENSP00000507056.1:p.Phe1092=
ENST00000682480.1:c.3294C>T	ENSP00000508344.1:p.Phe1098=
ENST00000682546.1:c.3273C>T	ENSP00000508188.1:p.Phe1091=
ENST00000682585.1:c.3276C>T	ENSP00000506885.1:p.Phe1092=
ENST00000682595.1:n.3860C>T
ENST00000682607.1:c.1694C>T
ENST00000682612.1:c.128C>T
ENST00000682779.1:c.3267C>T	ENSP00000507947.1:p.Phe1089=
ENST00000682845.1:n.2378C>T
ENST00000682885.1:c.3231C>T	ENSP00000508036.1:p.Phe1077=
ENST00000682933.1:n.3350C>T
ENST00000683002.1:c.128C>T
ENST00000683072.1:n.3860C>T
ENST00000683080.1:n.895C>T
ENST00000683125.1:c.3384C>T	ENSP00000507939.1:p.Phe1128=
ENST00000683213.1:c.3279C>T	ENSP00000507751.1:p.Phe1093=
ENST00000683220.1:c.3306C>T	ENSP00000507151.1:p.Phe1102=
ENST00000683329.1:n.4079C>T
ENST00000683346.1:c.*3151C>T	ENSP00000507458.1:n.*3151C>T
ENST00000683409.1:n.1883C>T
ENST00000683459.1:n.3863C>T
ENST00000683528.1:c.128C>T
ENST00000683590.1:c.3024C>T	ENSP00000506820.1:p.Phe1008=
ENST00000683623.1:c.3183C>T	ENSP00000507702.1:p.Phe1061=
ENST00000683645.1:n.3827C>T
ENST00000683796.1:c.*3148C>T	ENSP00000508221.1:n.*3148C>T
ENST00000683802.1:n.6201C>T
ENST00000683833.1:c.3267C>T	ENSP00000506852.1:p.Phe1089=
ENST00000683994.1:c.3276C>T	ENSP00000507181.1:p.Phe1092=
ENST00000684290.1:c.*812C>T	ENSP00000507243.1:n.*812C>T
ENST00000684306.1:c.*3189C>T	ENSP00000508384.1:n.*3189C>T
ENST00000684341.1:n.3296C>T
ENST00000684383.1:c.*2914C>T	ENSP00000506863.1:n.*2914C>T
ENST00000684418.1:n.4457C>T
ENST00000684454.1:n.2626C>T
ENST00000684619.1:c.*3148C>T	ENSP00000508088.1:n.*3148C>T
ENST00000684743.1:n.4307C>T
ENST00000260665.12:c.3276C>T MANE Select	ENSP00000260665.7:p.Phe1092=
ENST00000260665.11:c.3276C>T	ENSP00000260665.7:p.Phe1092=
NM_133259.3:c.3276C>T	NP_573566.2:p.Phe1092=
XM_006711915.2:c.3198C>T	XP_006711978.1:p.Phe1066=
XM_011532473.1:c.3276C>T	XP_011530775.1:p.Phe1092=
XM_011532474.1:c.3276C>T	XP_011530776.1:p.Phe1092=
XM_017003117.1:c.3198C>T	XP_016858606.1:p.Phe1066=
XR_002958896.1:n.3318C>T
NM_133259.4:c.3276C>T MANE Select	NP_573566.2:p.Phe1092=