Canonical Allele Identifier: CA346676352

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126369C>G (hg19) ; chr2:g.43899230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899230C>G , CM000664.2:g.43899230C>G	GRCh38
NC_000002.11:g.44126369C>G , CM000664.1:g.44126369C>G	GRCh37
NC_000002.10:g.43979873C>G	NCBI36
NG_008247.1:g.101776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.245G>C
ENST00000472420.6:n.893G>C
ENST00000483489.2:n.245G>C
ENST00000681993.1:n.1366G>C
ENST00000682303.1:c.*3600G>C	ENSP00000508325.1:n.*3600G>C
ENST00000682308.1:c.3814G>C	ENSP00000507056.1:p.Ala1272Pro
ENST00000682434.1:n.1365G>C
ENST00000682480.1:c.3832G>C	ENSP00000508344.1:p.Ala1278Pro
ENST00000682546.1:c.3811G>C	ENSP00000508188.1:p.Ala1271Pro
ENST00000682585.1:c.3814G>C	ENSP00000506885.1:p.Ala1272Pro
ENST00000682595.1:n.4398G>C
ENST00000682607.1:c.2232G>C
ENST00000682612.1:c.666G>C
ENST00000682779.1:c.3805G>C	ENSP00000507947.1:p.Ala1269Pro
ENST00000682885.1:c.3769G>C	ENSP00000508036.1:p.Ala1257Pro
ENST00000682933.1:n.3888G>C
ENST00000683002.1:c.666G>C
ENST00000683072.1:n.4398G>C
ENST00000683080.1:n.1433G>C
ENST00000683125.1:c.3922G>C	ENSP00000507939.1:p.Ala1308Pro
ENST00000683213.1:c.3817G>C	ENSP00000507751.1:p.Ala1273Pro
ENST00000683220.1:c.3844G>C	ENSP00000507151.1:p.Ala1282Pro
ENST00000683329.1:n.4617G>C
ENST00000683346.1:c.*3689G>C	ENSP00000507458.1:n.*3689G>C
ENST00000683409.1:n.2421G>C
ENST00000683459.1:n.4401G>C
ENST00000683528.1:c.742G>C
ENST00000683590.1:c.3562G>C	ENSP00000506820.1:p.Ala1188Pro
ENST00000683623.1:c.3721G>C	ENSP00000507702.1:p.Ala1241Pro
ENST00000683645.1:n.4365G>C
ENST00000683796.1:c.*3686G>C	ENSP00000508221.1:n.*3686G>C
ENST00000683802.1:n.6739G>C
ENST00000683833.1:c.3805G>C	ENSP00000506852.1:p.Ala1269Pro
ENST00000683994.1:c.3814G>C	ENSP00000507181.1:p.Ala1272Pro
ENST00000684290.1:c.*1350G>C	ENSP00000507243.1:n.*1350G>C
ENST00000684306.1:c.*3727G>C	ENSP00000508384.1:n.*3727G>C
ENST00000684341.1:n.3834G>C
ENST00000684383.1:c.*3452G>C	ENSP00000506863.1:n.*3452G>C
ENST00000684418.1:n.4995G>C
ENST00000684433.1:n.198G>C
ENST00000684454.1:n.3164G>C
ENST00000684619.1:c.*3686G>C	ENSP00000508088.1:n.*3686G>C
ENST00000684743.1:n.6559G>C
ENST00000260665.12:c.3814G>C MANE Select	ENSP00000260665.7:p.Ala1272Pro
ENST00000260665.11:c.3814G>C	ENSP00000260665.7:p.Ala1272Pro
ENST00000419884.5:c.55G>C	ENSP00000414207.1:p.Ala19Pro
ENST00000463456.5:n.2857G>C
ENST00000472420.5:n.211G>C
ENST00000483489.1:n.288G>C
NM_133259.3:c.3814G>C	NP_573566.2:p.Ala1272Pro
XM_006711915.2:c.3736G>C	XP_006711978.1:p.Ala1246Pro
XM_011532473.1:c.3814G>C	XP_011530775.1:p.Ala1272Pro
XM_011532474.1:c.3814G>C	XP_011530776.1:p.Ala1272Pro
XM_017003117.1:c.3736G>C	XP_016858606.1:p.Ala1246Pro
XR_002958896.1:n.3856G>C
NM_133259.4:c.3814G>C MANE Select	NP_573566.2:p.Ala1272Pro