Canonical Allele Identifier: CA425910359
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43948170-T-C
MyVariant Identifiers: chr2:g.44175309T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948170T>C , CM000664.2:g.43948170T>C GRCh38
NC_000002.11:g.44175309T>C , CM000664.1:g.44175309T>C GRCh37
NC_000002.10:g.44028813T>C NCBI36
NG_008247.1:g.52836A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1872A>G ENSP00000386562.2:p.Arg624=
ENST00000447246.2:c.1872A>G ENSP00000403637.2:p.Arg624=
ENST00000467058.2:n.601A>G
ENST00000681959.1:n.1486A>G
ENST00000681961.1:n.1892A>G
ENST00000682104.1:c.1746A>G ENSP00000507716.1:p.Arg582=
ENST00000682303.1:c.*1744A>G ENSP00000508325.1:n.*1744A>G
ENST00000682308.1:c.1872A>G ENSP00000507056.1:p.Arg624=
ENST00000682480.1:c.1872A>G ENSP00000508344.1:p.Arg624=
ENST00000682546.1:c.1869A>G ENSP00000508188.1:p.Arg623=
ENST00000682585.1:c.1872A>G ENSP00000506885.1:p.Arg624=
ENST00000682595.1:n.2454A>G
ENST00000682607.1:c.290A>G
ENST00000682779.1:c.1863A>G ENSP00000507947.1:p.Arg621=
ENST00000682885.1:c.1872A>G ENSP00000508036.1:p.Arg624=
ENST00000682933.1:n.1946A>G
ENST00000683072.1:n.2454A>G
ENST00000683082.1:n.1890A>G
ENST00000683125.1:c.1872A>G ENSP00000507939.1:p.Arg624=
ENST00000683213.1:c.1875A>G ENSP00000507751.1:p.Arg625=
ENST00000683220.1:c.1902A>G ENSP00000507151.1:p.Arg634=
ENST00000683329.1:n.2675A>G
ENST00000683346.1:c.*1747A>G ENSP00000507458.1:n.*1747A>G
ENST00000683459.1:n.2459A>G
ENST00000683590.1:c.1872A>G ENSP00000506820.1:p.Arg624=
ENST00000683623.1:c.1872A>G ENSP00000507702.1:p.Arg624=
ENST00000683645.1:n.2423A>G
ENST00000683694.1:n.623A>G
ENST00000683796.1:c.*1744A>G ENSP00000508221.1:n.*1744A>G
ENST00000683802.1:n.4797A>G
ENST00000683833.1:c.1863A>G ENSP00000506852.1:p.Arg621=
ENST00000683934.1:c.1758A>G
ENST00000683989.1:c.1872A>G ENSP00000507510.1:p.Arg624=
ENST00000683994.1:c.1872A>G ENSP00000507181.1:p.Arg624=
ENST00000684290.1:c.1872A>G ENSP00000507243.1:p.Arg624=
ENST00000684306.1:c.*1785A>G ENSP00000508384.1:n.*1785A>G
ENST00000684341.1:n.1892A>G
ENST00000684383.1:c.*1510A>G ENSP00000506863.1:n.*1510A>G
ENST00000684482.1:c.4341A>G
ENST00000684619.1:c.*1744A>G ENSP00000508088.1:n.*1744A>G
ENST00000684743.1:n.2903A>G
ENST00000260665.12:c.1872A>G MANE Select ENSP00000260665.7:p.Arg624=
ENST00000260665.11:c.1872A>G ENSP00000260665.7:p.Arg624=
NM_133259.3:c.1872A>G NP_573566.2:p.Arg624=
XM_006711915.2:c.1794A>G XP_006711978.1:p.Arg598=
XM_006711916.2:c.1872A>G XP_006711979.1:p.Arg624=
XM_011532473.1:c.1872A>G XP_011530775.1:p.Arg624=
XM_011532474.1:c.1872A>G XP_011530776.1:p.Arg624=
XM_006711916.3:c.1872A>G XP_006711979.1:p.Arg624=
XM_017003117.1:c.1794A>G XP_016858606.1:p.Arg598=
XR_002958896.1:n.1914A>G
NM_133259.4:c.1872A>G MANE Select NP_573566.2:p.Arg624=