Canonical Allele Identifier: CA346676752

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126465T>G (hg19) ; chr2:g.43899326T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899326T>G , CM000664.2:g.43899326T>G	GRCh38
NC_000002.11:g.44126465T>G , CM000664.1:g.44126465T>G	GRCh37
NC_000002.10:g.43979969T>G	NCBI36
NG_008247.1:g.101680A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.149A>C
ENST00000472420.6:n.797A>C
ENST00000483489.2:n.149A>C
ENST00000681993.1:n.1270A>C
ENST00000682303.1:c.*3504A>C	ENSP00000508325.1:n.*3504A>C
ENST00000682308.1:c.3718A>C	ENSP00000507056.1:p.Met1240Leu
ENST00000682434.1:n.1269A>C
ENST00000682480.1:c.3736A>C	ENSP00000508344.1:p.Met1246Leu
ENST00000682546.1:c.3715A>C	ENSP00000508188.1:p.Met1239Leu
ENST00000682585.1:c.3718A>C	ENSP00000506885.1:p.Met1240Leu
ENST00000682595.1:n.4302A>C
ENST00000682607.1:c.2136A>C
ENST00000682612.1:c.570A>C
ENST00000682779.1:c.3709A>C	ENSP00000507947.1:p.Met1237Leu
ENST00000682845.1:n.2820A>C
ENST00000682885.1:c.3673A>C	ENSP00000508036.1:p.Met1225Leu
ENST00000682933.1:n.3792A>C
ENST00000683002.1:c.570A>C
ENST00000683072.1:n.4302A>C
ENST00000683080.1:n.1337A>C
ENST00000683125.1:c.3826A>C	ENSP00000507939.1:p.Met1276Leu
ENST00000683213.1:c.3721A>C	ENSP00000507751.1:p.Met1241Leu
ENST00000683220.1:c.3748A>C	ENSP00000507151.1:p.Met1250Leu
ENST00000683329.1:n.4521A>C
ENST00000683346.1:c.*3593A>C	ENSP00000507458.1:n.*3593A>C
ENST00000683409.1:n.2325A>C
ENST00000683459.1:n.4305A>C
ENST00000683528.1:c.646A>C
ENST00000683590.1:c.3466A>C	ENSP00000506820.1:p.Met1156Leu
ENST00000683623.1:c.3625A>C	ENSP00000507702.1:p.Met1209Leu
ENST00000683645.1:n.4269A>C
ENST00000683796.1:c.*3590A>C	ENSP00000508221.1:n.*3590A>C
ENST00000683802.1:n.6643A>C
ENST00000683833.1:c.3709A>C	ENSP00000506852.1:p.Met1237Leu
ENST00000683994.1:c.3718A>C	ENSP00000507181.1:p.Met1240Leu
ENST00000684290.1:c.*1254A>C	ENSP00000507243.1:n.*1254A>C
ENST00000684306.1:c.*3631A>C	ENSP00000508384.1:n.*3631A>C
ENST00000684341.1:n.3738A>C
ENST00000684383.1:c.*3356A>C	ENSP00000506863.1:n.*3356A>C
ENST00000684418.1:n.4899A>C
ENST00000684433.1:n.102A>C
ENST00000684454.1:n.3068A>C
ENST00000684619.1:c.*3590A>C	ENSP00000508088.1:n.*3590A>C
ENST00000684743.1:n.6463A>C
ENST00000260665.12:c.3718A>C MANE Select	ENSP00000260665.7:p.Met1240Leu
ENST00000260665.11:c.3718A>C	ENSP00000260665.7:p.Met1240Leu
ENST00000463456.5:n.2761A>C
ENST00000472420.5:n.115A>C
ENST00000483489.1:n.192A>C
NM_133259.3:c.3718A>C	NP_573566.2:p.Met1240Leu
XM_006711915.2:c.3640A>C	XP_006711978.1:p.Met1214Leu
XM_011532473.1:c.3718A>C	XP_011530775.1:p.Met1240Leu
XM_011532474.1:c.3718A>C	XP_011530776.1:p.Met1240Leu
XM_017003117.1:c.3640A>C	XP_016858606.1:p.Met1214Leu
XR_002958896.1:n.3760A>C
NM_133259.4:c.3718A>C MANE Select	NP_573566.2:p.Met1240Leu