Canonical Allele Identifier: CA346676615

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126432A>G (hg19) ; chr2:g.43899293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899293A>G , CM000664.2:g.43899293A>G	GRCh38
NC_000002.11:g.44126432A>G , CM000664.1:g.44126432A>G	GRCh37
NC_000002.10:g.43979936A>G	NCBI36
NG_008247.1:g.101713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.182T>C
ENST00000472420.6:n.830T>C
ENST00000483489.2:n.182T>C
ENST00000681993.1:n.1303T>C
ENST00000682303.1:c.*3537T>C	ENSP00000508325.1:n.*3537T>C
ENST00000682308.1:c.3751T>C	ENSP00000507056.1:p.Tyr1251His
ENST00000682434.1:n.1302T>C
ENST00000682480.1:c.3769T>C	ENSP00000508344.1:p.Tyr1257His
ENST00000682546.1:c.3748T>C	ENSP00000508188.1:p.Tyr1250His
ENST00000682585.1:c.3751T>C	ENSP00000506885.1:p.Tyr1251His
ENST00000682595.1:n.4335T>C
ENST00000682607.1:c.2169T>C
ENST00000682612.1:c.603T>C
ENST00000682779.1:c.3742T>C	ENSP00000507947.1:p.Tyr1248His
ENST00000682845.1:n.2853T>C
ENST00000682885.1:c.3706T>C	ENSP00000508036.1:p.Tyr1236His
ENST00000682933.1:n.3825T>C
ENST00000683002.1:c.603T>C
ENST00000683072.1:n.4335T>C
ENST00000683080.1:n.1370T>C
ENST00000683125.1:c.3859T>C	ENSP00000507939.1:p.Tyr1287His
ENST00000683213.1:c.3754T>C	ENSP00000507751.1:p.Tyr1252His
ENST00000683220.1:c.3781T>C	ENSP00000507151.1:p.Tyr1261His
ENST00000683329.1:n.4554T>C
ENST00000683346.1:c.*3626T>C	ENSP00000507458.1:n.*3626T>C
ENST00000683409.1:n.2358T>C
ENST00000683459.1:n.4338T>C
ENST00000683528.1:c.679T>C
ENST00000683590.1:c.3499T>C	ENSP00000506820.1:p.Tyr1167His
ENST00000683623.1:c.3658T>C	ENSP00000507702.1:p.Tyr1220His
ENST00000683645.1:n.4302T>C
ENST00000683796.1:c.*3623T>C	ENSP00000508221.1:n.*3623T>C
ENST00000683802.1:n.6676T>C
ENST00000683833.1:c.3742T>C	ENSP00000506852.1:p.Tyr1248His
ENST00000683994.1:c.3751T>C	ENSP00000507181.1:p.Tyr1251His
ENST00000684290.1:c.*1287T>C	ENSP00000507243.1:n.*1287T>C
ENST00000684306.1:c.*3664T>C	ENSP00000508384.1:n.*3664T>C
ENST00000684341.1:n.3771T>C
ENST00000684383.1:c.*3389T>C	ENSP00000506863.1:n.*3389T>C
ENST00000684418.1:n.4932T>C
ENST00000684433.1:n.135T>C
ENST00000684454.1:n.3101T>C
ENST00000684619.1:c.*3623T>C	ENSP00000508088.1:n.*3623T>C
ENST00000684743.1:n.6496T>C
ENST00000260665.12:c.3751T>C MANE Select	ENSP00000260665.7:p.Tyr1251His
ENST00000260665.11:c.3751T>C	ENSP00000260665.7:p.Tyr1251His
ENST00000463456.5:n.2794T>C
ENST00000472420.5:n.148T>C
ENST00000483489.1:n.225T>C
NM_133259.3:c.3751T>C	NP_573566.2:p.Tyr1251His
XM_006711915.2:c.3673T>C	XP_006711978.1:p.Tyr1225His
XM_011532473.1:c.3751T>C	XP_011530775.1:p.Tyr1251His
XM_011532474.1:c.3751T>C	XP_011530776.1:p.Tyr1251His
XM_017003117.1:c.3673T>C	XP_016858606.1:p.Tyr1225His
XR_002958896.1:n.3793T>C
NM_133259.4:c.3751T>C MANE Select	NP_573566.2:p.Tyr1251His