Canonical Allele Identifier: CA346665078

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132896A>G (hg19) ; chr2:g.43905757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905757A>G , CM000664.2:g.43905757A>G	GRCh38
NC_000002.11:g.44132896A>G , CM000664.1:g.44132896A>G	GRCh37
NC_000002.10:g.43986400A>G	NCBI36
NG_008247.1:g.95249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.378T>C
ENST00000681993.1:n.851T>C
ENST00000682295.1:c.454T>C	ENSP00000507499.1:n.454T>C
ENST00000682303.1:c.*3085T>C	ENSP00000508325.1:n.*3085T>C
ENST00000682308.1:c.3299T>C	ENSP00000507056.1:p.Phe1100Ser
ENST00000682480.1:c.3317T>C	ENSP00000508344.1:p.Phe1106Ser
ENST00000682546.1:c.3296T>C	ENSP00000508188.1:p.Phe1099Ser
ENST00000682585.1:c.3299T>C	ENSP00000506885.1:p.Phe1100Ser
ENST00000682595.1:n.3883T>C
ENST00000682607.1:c.1717T>C
ENST00000682612.1:c.151T>C
ENST00000682779.1:c.3290T>C	ENSP00000507947.1:p.Phe1097Ser
ENST00000682845.1:n.2401T>C
ENST00000682885.1:c.3254T>C	ENSP00000508036.1:p.Phe1085Ser
ENST00000682933.1:n.3373T>C
ENST00000683002.1:c.151T>C
ENST00000683072.1:n.3883T>C
ENST00000683080.1:n.918T>C
ENST00000683125.1:c.3407T>C	ENSP00000507939.1:p.Phe1136Ser
ENST00000683213.1:c.3302T>C	ENSP00000507751.1:p.Phe1101Ser
ENST00000683220.1:c.3329T>C	ENSP00000507151.1:p.Phe1110Ser
ENST00000683329.1:n.4102T>C
ENST00000683346.1:c.*3174T>C	ENSP00000507458.1:n.*3174T>C
ENST00000683409.1:n.1906T>C
ENST00000683459.1:n.3886T>C
ENST00000683528.1:c.151T>C
ENST00000683590.1:c.3047T>C	ENSP00000506820.1:p.Phe1016Ser
ENST00000683623.1:c.3206T>C	ENSP00000507702.1:p.Phe1069Ser
ENST00000683645.1:n.3850T>C
ENST00000683796.1:c.*3171T>C	ENSP00000508221.1:n.*3171T>C
ENST00000683802.1:n.6224T>C
ENST00000683833.1:c.3290T>C	ENSP00000506852.1:p.Phe1097Ser
ENST00000683994.1:c.3299T>C	ENSP00000507181.1:p.Phe1100Ser
ENST00000684290.1:c.*835T>C	ENSP00000507243.1:n.*835T>C
ENST00000684306.1:c.*3212T>C	ENSP00000508384.1:n.*3212T>C
ENST00000684341.1:n.3319T>C
ENST00000684383.1:c.*2937T>C	ENSP00000506863.1:n.*2937T>C
ENST00000684418.1:n.4480T>C
ENST00000684454.1:n.2649T>C
ENST00000684619.1:c.*3171T>C	ENSP00000508088.1:n.*3171T>C
ENST00000684743.1:n.4330T>C
ENST00000260665.12:c.3299T>C MANE Select	ENSP00000260665.7:p.Phe1100Ser
ENST00000260665.11:c.3299T>C	ENSP00000260665.7:p.Phe1100Ser
NM_133259.3:c.3299T>C	NP_573566.2:p.Phe1100Ser
XM_006711915.2:c.3221T>C	XP_006711978.1:p.Phe1074Ser
XM_011532473.1:c.3299T>C	XP_011530775.1:p.Phe1100Ser
XM_011532474.1:c.3299T>C	XP_011530776.1:p.Phe1100Ser
XM_017003117.1:c.3221T>C	XP_016858606.1:p.Phe1074Ser
XR_002958896.1:n.3341T>C
NM_133259.4:c.3299T>C MANE Select	NP_573566.2:p.Phe1100Ser