Canonical Allele Identifier: CA1637944

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1083957
• ClinVar RCV Id: RCV001400823
• dbSNP Id: rs755185722
• ExAC: 2:44126388 G / C
• gnomAD v2: 2-44126388-G-C
• gnomAD v4: 2-43899249-G-C
• MyVariant Identifiers: chr2:g.44126388G>C (hg19) ; chr2:g.43899249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899249G>C , CM000664.2:g.43899249G>C	GRCh38
NC_000002.11:g.44126388G>C , CM000664.1:g.44126388G>C	GRCh37
NC_000002.10:g.43979892G>C	NCBI36
NG_008247.1:g.101757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.226C>G
ENST00000472420.6:n.874C>G
ENST00000483489.2:n.226C>G
ENST00000681993.1:n.1347C>G
ENST00000682303.1:c.*3581C>G	ENSP00000508325.1:n.*3581C>G
ENST00000682308.1:c.3795C>G	ENSP00000507056.1:p.Gly1265=
ENST00000682434.1:n.1346C>G
ENST00000682480.1:c.3813C>G	ENSP00000508344.1:p.Gly1271=
ENST00000682546.1:c.3792C>G	ENSP00000508188.1:p.Gly1264=
ENST00000682585.1:c.3795C>G	ENSP00000506885.1:p.Gly1265=
ENST00000682595.1:n.4379C>G
ENST00000682607.1:c.2213C>G
ENST00000682612.1:c.647C>G
ENST00000682779.1:c.3786C>G	ENSP00000507947.1:p.Gly1262=
ENST00000682845.1:n.2897C>G
ENST00000682885.1:c.3750C>G	ENSP00000508036.1:p.Gly1250=
ENST00000682933.1:n.3869C>G
ENST00000683002.1:c.647C>G
ENST00000683072.1:n.4379C>G
ENST00000683080.1:n.1414C>G
ENST00000683125.1:c.3903C>G	ENSP00000507939.1:p.Gly1301=
ENST00000683213.1:c.3798C>G	ENSP00000507751.1:p.Gly1266=
ENST00000683220.1:c.3825C>G	ENSP00000507151.1:p.Gly1275=
ENST00000683329.1:n.4598C>G
ENST00000683346.1:c.*3670C>G	ENSP00000507458.1:n.*3670C>G
ENST00000683409.1:n.2402C>G
ENST00000683459.1:n.4382C>G
ENST00000683528.1:c.723C>G
ENST00000683590.1:c.3543C>G	ENSP00000506820.1:p.Gly1181=
ENST00000683623.1:c.3702C>G	ENSP00000507702.1:p.Gly1234=
ENST00000683645.1:n.4346C>G
ENST00000683796.1:c.*3667C>G	ENSP00000508221.1:n.*3667C>G
ENST00000683802.1:n.6720C>G
ENST00000683833.1:c.3786C>G	ENSP00000506852.1:p.Gly1262=
ENST00000683994.1:c.3795C>G	ENSP00000507181.1:p.Gly1265=
ENST00000684290.1:c.*1331C>G	ENSP00000507243.1:n.*1331C>G
ENST00000684306.1:c.*3708C>G	ENSP00000508384.1:n.*3708C>G
ENST00000684341.1:n.3815C>G
ENST00000684383.1:c.*3433C>G	ENSP00000506863.1:n.*3433C>G
ENST00000684418.1:n.4976C>G
ENST00000684433.1:n.179C>G
ENST00000684454.1:n.3145C>G
ENST00000684619.1:c.*3667C>G	ENSP00000508088.1:n.*3667C>G
ENST00000684743.1:n.6540C>G
ENST00000260665.12:c.3795C>G MANE Select	ENSP00000260665.7:p.Gly1265=
ENST00000260665.11:c.3795C>G	ENSP00000260665.7:p.Gly1265=
ENST00000419884.5:c.36C>G	ENSP00000414207.1:p.Gly12=
ENST00000463456.5:n.2838C>G
ENST00000472420.5:n.192C>G
ENST00000483489.1:n.269C>G
NM_133259.3:c.3795C>G	NP_573566.2:p.Gly1265=
XM_006711915.2:c.3717C>G	XP_006711978.1:p.Gly1239=
XM_011532473.1:c.3795C>G	XP_011530775.1:p.Gly1265=
XM_011532474.1:c.3795C>G	XP_011530776.1:p.Gly1265=
XM_017003117.1:c.3717C>G	XP_016858606.1:p.Gly1239=
XR_002958896.1:n.3837C>G
NM_133259.4:c.3795C>G MANE Select	NP_573566.2:p.Gly1265=