Canonical Allele Identifier: CA346667986

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145192C>G (hg19) ; chr2:g.43918053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918053C>G , CM000664.2:g.43918053C>G	GRCh38
NC_000002.11:g.44145192C>G , CM000664.1:g.44145192C>G	GRCh37
NC_000002.10:g.43998696C>G	NCBI36
NG_008247.1:g.82953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.672G>C
ENST00000682295.1:c.303+203G>C	ENSP00000507499.1:n.303+203G>C
ENST00000682303.1:c.*2906G>C	ENSP00000508325.1:n.*2906G>C
ENST00000682308.1:c.3120G>C	ENSP00000507056.1:p.Leu1040Phe
ENST00000682480.1:c.3138G>C	ENSP00000508344.1:p.Leu1046Phe
ENST00000682546.1:c.3117G>C	ENSP00000508188.1:p.Leu1039Phe
ENST00000682585.1:c.3120G>C	ENSP00000506885.1:p.Leu1040Phe
ENST00000682595.1:n.3704G>C
ENST00000682607.1:c.1538G>C
ENST00000682779.1:c.3111G>C	ENSP00000507947.1:p.Leu1037Phe
ENST00000682845.1:n.2222G>C
ENST00000682885.1:c.3075G>C	ENSP00000508036.1:p.Leu1025Phe
ENST00000682933.1:n.3194G>C
ENST00000683072.1:n.3704G>C
ENST00000683080.1:n.739G>C
ENST00000683125.1:c.3228G>C	ENSP00000507939.1:p.Leu1076Phe
ENST00000683213.1:c.3123G>C	ENSP00000507751.1:p.Leu1041Phe
ENST00000683220.1:c.3150G>C	ENSP00000507151.1:p.Leu1050Phe
ENST00000683329.1:n.3923G>C
ENST00000683346.1:c.*2995G>C	ENSP00000507458.1:n.*2995G>C
ENST00000683409.1:n.1727G>C
ENST00000683459.1:n.3707G>C
ENST00000683590.1:c.2897-5495G>C	ENSP00000506820.1:n.2897-5495G>C
ENST00000683623.1:c.3027G>C	ENSP00000507702.1:p.Leu1009Phe
ENST00000683645.1:n.3671G>C
ENST00000683796.1:c.*2992G>C	ENSP00000508221.1:n.*2992G>C
ENST00000683802.1:n.6045G>C
ENST00000683833.1:c.3111G>C	ENSP00000506852.1:p.Leu1037Phe
ENST00000683994.1:c.3120G>C	ENSP00000507181.1:p.Leu1040Phe
ENST00000684290.1:c.*656G>C	ENSP00000507243.1:n.*656G>C
ENST00000684306.1:c.*3033G>C	ENSP00000508384.1:n.*3033G>C
ENST00000684341.1:n.3140G>C
ENST00000684383.1:c.*2758G>C	ENSP00000506863.1:n.*2758G>C
ENST00000684619.1:c.*2992G>C	ENSP00000508088.1:n.*2992G>C
ENST00000684705.1:n.241G>C
ENST00000684743.1:n.4151G>C
ENST00000260665.12:c.3120G>C MANE Select	ENSP00000260665.7:p.Leu1040Phe
ENST00000260665.11:c.3120G>C	ENSP00000260665.7:p.Leu1040Phe
NM_133259.3:c.3120G>C	NP_573566.2:p.Leu1040Phe
XM_006711915.2:c.3042G>C	XP_006711978.1:p.Leu1014Phe
XM_006711916.2:c.3120G>C	XP_006711979.1:p.Leu1040Phe
XM_011532473.1:c.3120G>C	XP_011530775.1:p.Leu1040Phe
XM_011532474.1:c.3120G>C	XP_011530776.1:p.Leu1040Phe
XM_006711916.3:c.3120G>C	XP_006711979.1:p.Leu1040Phe
XM_017003117.1:c.3042G>C	XP_016858606.1:p.Leu1014Phe
XR_002958896.1:n.3162G>C
NM_133259.4:c.3120G>C MANE Select	NP_573566.2:p.Leu1040Phe