Canonical Allele Identifier: CA346676549

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126414A>C (hg19) ; chr2:g.43899275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899275A>C , CM000664.2:g.43899275A>C	GRCh38
NC_000002.11:g.44126414A>C , CM000664.1:g.44126414A>C	GRCh37
NC_000002.10:g.43979918A>C	NCBI36
NG_008247.1:g.101731T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.200T>G
ENST00000472420.6:n.848T>G
ENST00000483489.2:n.200T>G
ENST00000681993.1:n.1321T>G
ENST00000682303.1:c.*3555T>G	ENSP00000508325.1:n.*3555T>G
ENST00000682308.1:c.3769T>G	ENSP00000507056.1:p.Phe1257Val
ENST00000682434.1:n.1320T>G
ENST00000682480.1:c.3787T>G	ENSP00000508344.1:p.Phe1263Val
ENST00000682546.1:c.3766T>G	ENSP00000508188.1:p.Phe1256Val
ENST00000682585.1:c.3769T>G	ENSP00000506885.1:p.Phe1257Val
ENST00000682595.1:n.4353T>G
ENST00000682607.1:c.2187T>G
ENST00000682612.1:c.621T>G
ENST00000682779.1:c.3760T>G	ENSP00000507947.1:p.Phe1254Val
ENST00000682845.1:n.2871T>G
ENST00000682885.1:c.3724T>G	ENSP00000508036.1:p.Phe1242Val
ENST00000682933.1:n.3843T>G
ENST00000683002.1:c.621T>G
ENST00000683072.1:n.4353T>G
ENST00000683080.1:n.1388T>G
ENST00000683125.1:c.3877T>G	ENSP00000507939.1:p.Phe1293Val
ENST00000683213.1:c.3772T>G	ENSP00000507751.1:p.Phe1258Val
ENST00000683220.1:c.3799T>G	ENSP00000507151.1:p.Phe1267Val
ENST00000683329.1:n.4572T>G
ENST00000683346.1:c.*3644T>G	ENSP00000507458.1:n.*3644T>G
ENST00000683409.1:n.2376T>G
ENST00000683459.1:n.4356T>G
ENST00000683528.1:c.697T>G
ENST00000683590.1:c.3517T>G	ENSP00000506820.1:p.Phe1173Val
ENST00000683623.1:c.3676T>G	ENSP00000507702.1:p.Phe1226Val
ENST00000683645.1:n.4320T>G
ENST00000683796.1:c.*3641T>G	ENSP00000508221.1:n.*3641T>G
ENST00000683802.1:n.6694T>G
ENST00000683833.1:c.3760T>G	ENSP00000506852.1:p.Phe1254Val
ENST00000683994.1:c.3769T>G	ENSP00000507181.1:p.Phe1257Val
ENST00000684290.1:c.*1305T>G	ENSP00000507243.1:n.*1305T>G
ENST00000684306.1:c.*3682T>G	ENSP00000508384.1:n.*3682T>G
ENST00000684341.1:n.3789T>G
ENST00000684383.1:c.*3407T>G	ENSP00000506863.1:n.*3407T>G
ENST00000684418.1:n.4950T>G
ENST00000684433.1:n.153T>G
ENST00000684454.1:n.3119T>G
ENST00000684619.1:c.*3641T>G	ENSP00000508088.1:n.*3641T>G
ENST00000684743.1:n.6514T>G
ENST00000260665.12:c.3769T>G MANE Select	ENSP00000260665.7:p.Phe1257Val
ENST00000260665.11:c.3769T>G	ENSP00000260665.7:p.Phe1257Val
ENST00000419884.5:c.10T>G	ENSP00000414207.1:p.Phe4Val
ENST00000463456.5:n.2812T>G
ENST00000472420.5:n.166T>G
ENST00000483489.1:n.243T>G
NM_133259.3:c.3769T>G	NP_573566.2:p.Phe1257Val
XM_006711915.2:c.3691T>G	XP_006711978.1:p.Phe1231Val
XM_011532473.1:c.3769T>G	XP_011530775.1:p.Phe1257Val
XM_011532474.1:c.3769T>G	XP_011530776.1:p.Phe1257Val
XM_017003117.1:c.3691T>G	XP_016858606.1:p.Phe1231Val
XR_002958896.1:n.3811T>G
NM_133259.4:c.3769T>G MANE Select	NP_573566.2:p.Phe1257Val