Canonical Allele Identifier: CA346665075

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132895G>C (hg19) ; chr2:g.43905756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905756G>C , CM000664.2:g.43905756G>C	GRCh38
NC_000002.11:g.44132895G>C , CM000664.1:g.44132895G>C	GRCh37
NC_000002.10:g.43986399G>C	NCBI36
NG_008247.1:g.95250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.379C>G
ENST00000681993.1:n.852C>G
ENST00000682295.1:c.455C>G	ENSP00000507499.1:n.455C>G
ENST00000682303.1:c.*3086C>G	ENSP00000508325.1:n.*3086C>G
ENST00000682308.1:c.3300C>G	ENSP00000507056.1:p.Phe1100Leu
ENST00000682480.1:c.3318C>G	ENSP00000508344.1:p.Phe1106Leu
ENST00000682546.1:c.3297C>G	ENSP00000508188.1:p.Phe1099Leu
ENST00000682585.1:c.3300C>G	ENSP00000506885.1:p.Phe1100Leu
ENST00000682595.1:n.3884C>G
ENST00000682607.1:c.1718C>G
ENST00000682612.1:c.152C>G
ENST00000682779.1:c.3291C>G	ENSP00000507947.1:p.Phe1097Leu
ENST00000682845.1:n.2402C>G
ENST00000682885.1:c.3255C>G	ENSP00000508036.1:p.Phe1085Leu
ENST00000682933.1:n.3374C>G
ENST00000683002.1:c.152C>G
ENST00000683072.1:n.3884C>G
ENST00000683080.1:n.919C>G
ENST00000683125.1:c.3408C>G	ENSP00000507939.1:p.Phe1136Leu
ENST00000683213.1:c.3303C>G	ENSP00000507751.1:p.Phe1101Leu
ENST00000683220.1:c.3330C>G	ENSP00000507151.1:p.Phe1110Leu
ENST00000683329.1:n.4103C>G
ENST00000683346.1:c.*3175C>G	ENSP00000507458.1:n.*3175C>G
ENST00000683409.1:n.1907C>G
ENST00000683459.1:n.3887C>G
ENST00000683528.1:c.152C>G
ENST00000683590.1:c.3048C>G	ENSP00000506820.1:p.Phe1016Leu
ENST00000683623.1:c.3207C>G	ENSP00000507702.1:p.Phe1069Leu
ENST00000683645.1:n.3851C>G
ENST00000683796.1:c.*3172C>G	ENSP00000508221.1:n.*3172C>G
ENST00000683802.1:n.6225C>G
ENST00000683833.1:c.3291C>G	ENSP00000506852.1:p.Phe1097Leu
ENST00000683994.1:c.3300C>G	ENSP00000507181.1:p.Phe1100Leu
ENST00000684290.1:c.*836C>G	ENSP00000507243.1:n.*836C>G
ENST00000684306.1:c.*3213C>G	ENSP00000508384.1:n.*3213C>G
ENST00000684341.1:n.3320C>G
ENST00000684383.1:c.*2938C>G	ENSP00000506863.1:n.*2938C>G
ENST00000684418.1:n.4481C>G
ENST00000684454.1:n.2650C>G
ENST00000684619.1:c.*3172C>G	ENSP00000508088.1:n.*3172C>G
ENST00000684743.1:n.4331C>G
ENST00000260665.12:c.3300C>G MANE Select	ENSP00000260665.7:p.Phe1100Leu
ENST00000260665.11:c.3300C>G	ENSP00000260665.7:p.Phe1100Leu
NM_133259.3:c.3300C>G	NP_573566.2:p.Phe1100Leu
XM_006711915.2:c.3222C>G	XP_006711978.1:p.Phe1074Leu
XM_011532473.1:c.3300C>G	XP_011530775.1:p.Phe1100Leu
XM_011532474.1:c.3300C>G	XP_011530776.1:p.Phe1100Leu
XM_017003117.1:c.3222C>G	XP_016858606.1:p.Phe1074Leu
XR_002958896.1:n.3342C>G
NM_133259.4:c.3300C>G MANE Select	NP_573566.2:p.Phe1100Leu