Canonical Allele Identifier: CA346676312

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126358C>G (hg19) ; chr2:g.43899219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899219C>G , CM000664.2:g.43899219C>G	GRCh38
NC_000002.11:g.44126358C>G , CM000664.1:g.44126358C>G	GRCh37
NC_000002.10:g.43979862C>G	NCBI36
NG_008247.1:g.101787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256G>C
ENST00000472420.6:n.904G>C
ENST00000483489.2:n.256G>C
ENST00000681993.1:n.1377G>C
ENST00000682303.1:c.*3611G>C	ENSP00000508325.1:n.*3611G>C
ENST00000682308.1:c.3825G>C	ENSP00000507056.1:p.Gln1275His
ENST00000682434.1:n.1376G>C
ENST00000682480.1:c.3843G>C	ENSP00000508344.1:p.Gln1281His
ENST00000682546.1:c.3822G>C	ENSP00000508188.1:p.Gln1274His
ENST00000682585.1:c.3825G>C	ENSP00000506885.1:p.Gln1275His
ENST00000682595.1:n.4409G>C
ENST00000682607.1:c.2243G>C
ENST00000682612.1:c.677G>C
ENST00000682779.1:c.3816G>C	ENSP00000507947.1:p.Gln1272His
ENST00000682885.1:c.3780G>C	ENSP00000508036.1:p.Gln1260His
ENST00000682933.1:n.3899G>C
ENST00000683002.1:c.677G>C
ENST00000683072.1:n.4409G>C
ENST00000683080.1:n.1444G>C
ENST00000683125.1:c.3933G>C	ENSP00000507939.1:p.Gln1311His
ENST00000683213.1:c.3828G>C	ENSP00000507751.1:p.Gln1276His
ENST00000683220.1:c.3855G>C	ENSP00000507151.1:p.Gln1285His
ENST00000683329.1:n.4628G>C
ENST00000683346.1:c.*3700G>C	ENSP00000507458.1:n.*3700G>C
ENST00000683409.1:n.2432G>C
ENST00000683459.1:n.4412G>C
ENST00000683528.1:c.753G>C
ENST00000683590.1:c.3573G>C	ENSP00000506820.1:p.Gln1191His
ENST00000683623.1:c.3732G>C	ENSP00000507702.1:p.Gln1244His
ENST00000683645.1:n.4376G>C
ENST00000683796.1:c.*3697G>C	ENSP00000508221.1:n.*3697G>C
ENST00000683833.1:c.3816G>C	ENSP00000506852.1:p.Gln1272His
ENST00000683994.1:c.3825G>C	ENSP00000507181.1:p.Gln1275His
ENST00000684290.1:c.*1361G>C	ENSP00000507243.1:n.*1361G>C
ENST00000684306.1:c.*3738G>C	ENSP00000508384.1:n.*3738G>C
ENST00000684341.1:n.3845G>C
ENST00000684383.1:c.*3463G>C	ENSP00000506863.1:n.*3463G>C
ENST00000684418.1:n.5006G>C
ENST00000684433.1:n.209G>C
ENST00000684454.1:n.3175G>C
ENST00000684619.1:c.*3697G>C	ENSP00000508088.1:n.*3697G>C
ENST00000684743.1:n.6570G>C
ENST00000260665.12:c.3825G>C MANE Select	ENSP00000260665.7:p.Gln1275His
ENST00000260665.11:c.3825G>C	ENSP00000260665.7:p.Gln1275His
ENST00000419884.5:c.66G>C	ENSP00000414207.1:p.Gln22His
ENST00000463456.5:n.2868G>C
ENST00000472420.5:n.222G>C
ENST00000483489.1:n.299G>C
NM_133259.3:c.3825G>C	NP_573566.2:p.Gln1275His
XM_006711915.2:c.3747G>C	XP_006711978.1:p.Gln1249His
XM_011532473.1:c.3825G>C	XP_011530775.1:p.Gln1275His
XM_011532474.1:c.3825G>C	XP_011530776.1:p.Gln1275His
XM_017003117.1:c.3747G>C	XP_016858606.1:p.Gln1249His
XR_002958896.1:n.3867G>C
NM_133259.4:c.3825G>C MANE Select	NP_573566.2:p.Gln1275His