Canonical Allele Identifier: CA346668079

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145209A>G (hg19) ; chr2:g.43918070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918070A>G , CM000664.2:g.43918070A>G	GRCh38
NC_000002.11:g.44145209A>G , CM000664.1:g.44145209A>G	GRCh37
NC_000002.10:g.43998713A>G	NCBI36
NG_008247.1:g.82936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.655T>C
ENST00000682295.1:c.303+186T>C	ENSP00000507499.1:n.303+186T>C
ENST00000682303.1:c.*2889T>C	ENSP00000508325.1:n.*2889T>C
ENST00000682308.1:c.3103T>C	ENSP00000507056.1:p.Phe1035Leu
ENST00000682480.1:c.3121T>C	ENSP00000508344.1:p.Phe1041Leu
ENST00000682546.1:c.3100T>C	ENSP00000508188.1:p.Phe1034Leu
ENST00000682585.1:c.3103T>C	ENSP00000506885.1:p.Phe1035Leu
ENST00000682595.1:n.3687T>C
ENST00000682607.1:c.1521T>C
ENST00000682779.1:c.3094T>C	ENSP00000507947.1:p.Phe1032Leu
ENST00000682845.1:n.2205T>C
ENST00000682885.1:c.3058T>C	ENSP00000508036.1:p.Phe1020Leu
ENST00000682933.1:n.3177T>C
ENST00000683072.1:n.3687T>C
ENST00000683080.1:n.722T>C
ENST00000683125.1:c.3211T>C	ENSP00000507939.1:p.Phe1071Leu
ENST00000683213.1:c.3106T>C	ENSP00000507751.1:p.Phe1036Leu
ENST00000683220.1:c.3133T>C	ENSP00000507151.1:p.Phe1045Leu
ENST00000683329.1:n.3906T>C
ENST00000683346.1:c.*2978T>C	ENSP00000507458.1:n.*2978T>C
ENST00000683409.1:n.1710T>C
ENST00000683459.1:n.3690T>C
ENST00000683590.1:c.2897-5512T>C	ENSP00000506820.1:n.2897-5512T>C
ENST00000683623.1:c.3010T>C	ENSP00000507702.1:p.Phe1004Leu
ENST00000683645.1:n.3654T>C
ENST00000683796.1:c.*2975T>C	ENSP00000508221.1:n.*2975T>C
ENST00000683802.1:n.6028T>C
ENST00000683833.1:c.3094T>C	ENSP00000506852.1:p.Phe1032Leu
ENST00000683994.1:c.3103T>C	ENSP00000507181.1:p.Phe1035Leu
ENST00000684290.1:c.*639T>C	ENSP00000507243.1:n.*639T>C
ENST00000684306.1:c.*3016T>C	ENSP00000508384.1:n.*3016T>C
ENST00000684341.1:n.3123T>C
ENST00000684383.1:c.*2741T>C	ENSP00000506863.1:n.*2741T>C
ENST00000684619.1:c.*2975T>C	ENSP00000508088.1:n.*2975T>C
ENST00000684705.1:n.224T>C
ENST00000684743.1:n.4134T>C
ENST00000260665.12:c.3103T>C MANE Select	ENSP00000260665.7:p.Phe1035Leu
ENST00000260665.11:c.3103T>C	ENSP00000260665.7:p.Phe1035Leu
NM_133259.3:c.3103T>C	NP_573566.2:p.Phe1035Leu
XM_006711915.2:c.3025T>C	XP_006711978.1:p.Phe1009Leu
XM_006711916.2:c.3103T>C	XP_006711979.1:p.Phe1035Leu
XM_011532473.1:c.3103T>C	XP_011530775.1:p.Phe1035Leu
XM_011532474.1:c.3103T>C	XP_011530776.1:p.Phe1035Leu
XM_006711916.3:c.3103T>C	XP_006711979.1:p.Phe1035Leu
XM_017003117.1:c.3025T>C	XP_016858606.1:p.Phe1009Leu
XR_002958896.1:n.3145T>C
NM_133259.4:c.3103T>C MANE Select	NP_573566.2:p.Phe1035Leu