Canonical Allele Identifier: CA346676550

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126415A>C (hg19) ; chr2:g.43899276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899276A>C , CM000664.2:g.43899276A>C	GRCh38
NC_000002.11:g.44126415A>C , CM000664.1:g.44126415A>C	GRCh37
NC_000002.10:g.43979919A>C	NCBI36
NG_008247.1:g.101730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.199T>G
ENST00000472420.6:n.847T>G
ENST00000483489.2:n.199T>G
ENST00000681993.1:n.1320T>G
ENST00000682303.1:c.*3554T>G	ENSP00000508325.1:n.*3554T>G
ENST00000682308.1:c.3768T>G	ENSP00000507056.1:p.Asp1256Glu
ENST00000682434.1:n.1319T>G
ENST00000682480.1:c.3786T>G	ENSP00000508344.1:p.Asp1262Glu
ENST00000682546.1:c.3765T>G	ENSP00000508188.1:p.Asp1255Glu
ENST00000682585.1:c.3768T>G	ENSP00000506885.1:p.Asp1256Glu
ENST00000682595.1:n.4352T>G
ENST00000682607.1:c.2186T>G
ENST00000682612.1:c.620T>G
ENST00000682779.1:c.3759T>G	ENSP00000507947.1:p.Asp1253Glu
ENST00000682845.1:n.2870T>G
ENST00000682885.1:c.3723T>G	ENSP00000508036.1:p.Asp1241Glu
ENST00000682933.1:n.3842T>G
ENST00000683002.1:c.620T>G
ENST00000683072.1:n.4352T>G
ENST00000683080.1:n.1387T>G
ENST00000683125.1:c.3876T>G	ENSP00000507939.1:p.Asp1292Glu
ENST00000683213.1:c.3771T>G	ENSP00000507751.1:p.Asp1257Glu
ENST00000683220.1:c.3798T>G	ENSP00000507151.1:p.Asp1266Glu
ENST00000683329.1:n.4571T>G
ENST00000683346.1:c.*3643T>G	ENSP00000507458.1:n.*3643T>G
ENST00000683409.1:n.2375T>G
ENST00000683459.1:n.4355T>G
ENST00000683528.1:c.696T>G
ENST00000683590.1:c.3516T>G	ENSP00000506820.1:p.Asp1172Glu
ENST00000683623.1:c.3675T>G	ENSP00000507702.1:p.Asp1225Glu
ENST00000683645.1:n.4319T>G
ENST00000683796.1:c.*3640T>G	ENSP00000508221.1:n.*3640T>G
ENST00000683802.1:n.6693T>G
ENST00000683833.1:c.3759T>G	ENSP00000506852.1:p.Asp1253Glu
ENST00000683994.1:c.3768T>G	ENSP00000507181.1:p.Asp1256Glu
ENST00000684290.1:c.*1304T>G	ENSP00000507243.1:n.*1304T>G
ENST00000684306.1:c.*3681T>G	ENSP00000508384.1:n.*3681T>G
ENST00000684341.1:n.3788T>G
ENST00000684383.1:c.*3406T>G	ENSP00000506863.1:n.*3406T>G
ENST00000684418.1:n.4949T>G
ENST00000684433.1:n.152T>G
ENST00000684454.1:n.3118T>G
ENST00000684619.1:c.*3640T>G	ENSP00000508088.1:n.*3640T>G
ENST00000684743.1:n.6513T>G
ENST00000260665.12:c.3768T>G MANE Select	ENSP00000260665.7:p.Asp1256Glu
ENST00000260665.11:c.3768T>G	ENSP00000260665.7:p.Asp1256Glu
ENST00000419884.5:c.9T>G	ENSP00000414207.1:p.Asp3Glu
ENST00000463456.5:n.2811T>G
ENST00000472420.5:n.165T>G
ENST00000483489.1:n.242T>G
NM_133259.3:c.3768T>G	NP_573566.2:p.Asp1256Glu
XM_006711915.2:c.3690T>G	XP_006711978.1:p.Asp1230Glu
XM_011532473.1:c.3768T>G	XP_011530775.1:p.Asp1256Glu
XM_011532474.1:c.3768T>G	XP_011530776.1:p.Asp1256Glu
XM_017003117.1:c.3690T>G	XP_016858606.1:p.Asp1230Glu
XR_002958896.1:n.3810T>G
NM_133259.4:c.3768T>G MANE Select	NP_573566.2:p.Asp1256Glu