Canonical Allele Identifier: CA346675957

Gene: LRPPRC

Linked Data

• dbSNP Id: rs863224050
• gnomAD v2: 2-44175266-T-A
• gnomAD v4: 2-43948127-T-A
• MyVariant Identifiers: chr2:g.44175266T>A (hg19) ; chr2:g.43948127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948127T>A , CM000664.2:g.43948127T>A	GRCh38
NC_000002.11:g.44175266T>A , CM000664.1:g.44175266T>A	GRCh37
NC_000002.10:g.44028770T>A	NCBI36
NG_008247.1:g.52879A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.1915A>T	ENSP00000386562.2:p.Ile639Phe
ENST00000447246.2:c.1915A>T	ENSP00000403637.2:p.Ile639Phe
ENST00000681959.1:n.1529A>T
ENST00000681961.1:n.1935A>T
ENST00000682104.1:c.1789A>T	ENSP00000507716.1:p.Ile597Phe
ENST00000682303.1:c.*1787A>T	ENSP00000508325.1:n.*1787A>T
ENST00000682308.1:c.1915A>T	ENSP00000507056.1:p.Ile639Phe
ENST00000682480.1:c.1915A>T	ENSP00000508344.1:p.Ile639Phe
ENST00000682546.1:c.1912A>T	ENSP00000508188.1:p.Ile638Phe
ENST00000682585.1:c.1915A>T	ENSP00000506885.1:p.Ile639Phe
ENST00000682595.1:n.2497A>T
ENST00000682607.1:c.333A>T
ENST00000682779.1:c.1906A>T	ENSP00000507947.1:p.Ile636Phe
ENST00000682885.1:c.1915A>T	ENSP00000508036.1:p.Ile639Phe
ENST00000682933.1:n.1989A>T
ENST00000683072.1:n.2497A>T
ENST00000683082.1:n.1933A>T
ENST00000683125.1:c.1915A>T	ENSP00000507939.1:p.Ile639Phe
ENST00000683213.1:c.1918A>T	ENSP00000507751.1:p.Ile640Phe
ENST00000683220.1:c.1945A>T	ENSP00000507151.1:p.Ile649Phe
ENST00000683329.1:n.2718A>T
ENST00000683346.1:c.*1790A>T	ENSP00000507458.1:n.*1790A>T
ENST00000683459.1:n.2502A>T
ENST00000683590.1:c.1915A>T	ENSP00000506820.1:p.Ile639Phe
ENST00000683623.1:c.1915A>T	ENSP00000507702.1:p.Ile639Phe
ENST00000683645.1:n.2466A>T
ENST00000683694.1:n.666A>T
ENST00000683796.1:c.*1787A>T	ENSP00000508221.1:n.*1787A>T
ENST00000683802.1:n.4840A>T
ENST00000683833.1:c.1906A>T	ENSP00000506852.1:p.Ile636Phe
ENST00000683934.1:c.1801A>T
ENST00000683989.1:c.1915A>T	ENSP00000507510.1:p.Ile639Phe
ENST00000683994.1:c.1915A>T	ENSP00000507181.1:p.Ile639Phe
ENST00000684290.1:c.1915A>T	ENSP00000507243.1:p.Ile639Phe
ENST00000684306.1:c.*1828A>T	ENSP00000508384.1:n.*1828A>T
ENST00000684341.1:n.1935A>T
ENST00000684383.1:c.*1553A>T	ENSP00000506863.1:n.*1553A>T
ENST00000684482.1:c.4384A>T
ENST00000684619.1:c.*1787A>T	ENSP00000508088.1:n.*1787A>T
ENST00000684743.1:n.2946A>T
ENST00000260665.12:c.1915A>T MANE Select	ENSP00000260665.7:p.Ile639Phe
ENST00000260665.11:c.1915A>T	ENSP00000260665.7:p.Ile639Phe
NM_133259.3:c.1915A>T	NP_573566.2:p.Ile639Phe
XM_006711915.2:c.1837A>T	XP_006711978.1:p.Ile613Phe
XM_006711916.2:c.1915A>T	XP_006711979.1:p.Ile639Phe
XM_011532473.1:c.1915A>T	XP_011530775.1:p.Ile639Phe
XM_011532474.1:c.1915A>T	XP_011530776.1:p.Ile639Phe
XM_006711916.3:c.1915A>T	XP_006711979.1:p.Ile639Phe
XM_017003117.1:c.1837A>T	XP_016858606.1:p.Ile613Phe
XR_002958896.1:n.1957A>T
NM_133259.4:c.1915A>T MANE Select	NP_573566.2:p.Ile639Phe