Canonical Allele Identifier: CA346676450

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899251-C-T
• MyVariant Identifiers: chr2:g.44126390C>T (hg19) ; chr2:g.43899251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899251C>T , CM000664.2:g.43899251C>T	GRCh38
NC_000002.11:g.44126390C>T , CM000664.1:g.44126390C>T	GRCh37
NC_000002.10:g.43979894C>T	NCBI36
NG_008247.1:g.101755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.224G>A
ENST00000472420.6:n.872G>A
ENST00000483489.2:n.224G>A
ENST00000681993.1:n.1345G>A
ENST00000682303.1:c.*3579G>A	ENSP00000508325.1:n.*3579G>A
ENST00000682308.1:c.3793G>A	ENSP00000507056.1:p.Gly1265Ser
ENST00000682434.1:n.1344G>A
ENST00000682480.1:c.3811G>A	ENSP00000508344.1:p.Gly1271Ser
ENST00000682546.1:c.3790G>A	ENSP00000508188.1:p.Gly1264Ser
ENST00000682585.1:c.3793G>A	ENSP00000506885.1:p.Gly1265Ser
ENST00000682595.1:n.4377G>A
ENST00000682607.1:c.2211G>A
ENST00000682612.1:c.645G>A
ENST00000682779.1:c.3784G>A	ENSP00000507947.1:p.Gly1262Ser
ENST00000682845.1:n.2895G>A
ENST00000682885.1:c.3748G>A	ENSP00000508036.1:p.Gly1250Ser
ENST00000682933.1:n.3867G>A
ENST00000683002.1:c.645G>A
ENST00000683072.1:n.4377G>A
ENST00000683080.1:n.1412G>A
ENST00000683125.1:c.3901G>A	ENSP00000507939.1:p.Gly1301Ser
ENST00000683213.1:c.3796G>A	ENSP00000507751.1:p.Gly1266Ser
ENST00000683220.1:c.3823G>A	ENSP00000507151.1:p.Gly1275Ser
ENST00000683329.1:n.4596G>A
ENST00000683346.1:c.*3668G>A	ENSP00000507458.1:n.*3668G>A
ENST00000683409.1:n.2400G>A
ENST00000683459.1:n.4380G>A
ENST00000683528.1:c.721G>A
ENST00000683590.1:c.3541G>A	ENSP00000506820.1:p.Gly1181Ser
ENST00000683623.1:c.3700G>A	ENSP00000507702.1:p.Gly1234Ser
ENST00000683645.1:n.4344G>A
ENST00000683796.1:c.*3665G>A	ENSP00000508221.1:n.*3665G>A
ENST00000683802.1:n.6718G>A
ENST00000683833.1:c.3784G>A	ENSP00000506852.1:p.Gly1262Ser
ENST00000683994.1:c.3793G>A	ENSP00000507181.1:p.Gly1265Ser
ENST00000684290.1:c.*1329G>A	ENSP00000507243.1:n.*1329G>A
ENST00000684306.1:c.*3706G>A	ENSP00000508384.1:n.*3706G>A
ENST00000684341.1:n.3813G>A
ENST00000684383.1:c.*3431G>A	ENSP00000506863.1:n.*3431G>A
ENST00000684418.1:n.4974G>A
ENST00000684433.1:n.177G>A
ENST00000684454.1:n.3143G>A
ENST00000684619.1:c.*3665G>A	ENSP00000508088.1:n.*3665G>A
ENST00000684743.1:n.6538G>A
ENST00000260665.12:c.3793G>A MANE Select	ENSP00000260665.7:p.Gly1265Ser
ENST00000260665.11:c.3793G>A	ENSP00000260665.7:p.Gly1265Ser
ENST00000419884.5:c.34G>A	ENSP00000414207.1:p.Gly12Ser
ENST00000463456.5:n.2836G>A
ENST00000472420.5:n.190G>A
ENST00000483489.1:n.267G>A
NM_133259.3:c.3793G>A	NP_573566.2:p.Gly1265Ser
XM_006711915.2:c.3715G>A	XP_006711978.1:p.Gly1239Ser
XM_011532473.1:c.3793G>A	XP_011530775.1:p.Gly1265Ser
XM_011532474.1:c.3793G>A	XP_011530776.1:p.Gly1265Ser
XM_017003117.1:c.3715G>A	XP_016858606.1:p.Gly1239Ser
XR_002958896.1:n.3835G>A
NM_133259.4:c.3793G>A MANE Select	NP_573566.2:p.Gly1265Ser