Canonical Allele Identifier: CA425908461

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1612344
• ClinVar RCV Id: RCV002168560
• dbSNP Id: rs1480745429
• MyVariant Identifiers: chr2:g.44145179A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918040A>G , CM000664.2:g.43918040A>G	GRCh38
NC_000002.11:g.44145179A>G , CM000664.1:g.44145179A>G	GRCh37
NC_000002.10:g.43998683A>G	NCBI36
NG_008247.1:g.82966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.685T>C
ENST00000682295.1:c.303+216T>C	ENSP00000507499.1:n.303+216T>C
ENST00000682303.1:c.*2919T>C	ENSP00000508325.1:n.*2919T>C
ENST00000682308.1:c.3133T>C	ENSP00000507056.1:p.Leu1045=
ENST00000682480.1:c.3151T>C	ENSP00000508344.1:p.Leu1051=
ENST00000682546.1:c.3130T>C	ENSP00000508188.1:p.Leu1044=
ENST00000682585.1:c.3133T>C	ENSP00000506885.1:p.Leu1045=
ENST00000682595.1:n.3717T>C
ENST00000682607.1:c.1551T>C
ENST00000682779.1:c.3124T>C	ENSP00000507947.1:p.Leu1042=
ENST00000682845.1:n.2235T>C
ENST00000682885.1:c.3088T>C	ENSP00000508036.1:p.Leu1030=
ENST00000682933.1:n.3207T>C
ENST00000683072.1:n.3717T>C
ENST00000683080.1:n.752T>C
ENST00000683125.1:c.3241T>C	ENSP00000507939.1:p.Leu1081=
ENST00000683213.1:c.3136T>C	ENSP00000507751.1:p.Leu1046=
ENST00000683220.1:c.3163T>C	ENSP00000507151.1:p.Leu1055=
ENST00000683329.1:n.3936T>C
ENST00000683346.1:c.*3008T>C	ENSP00000507458.1:n.*3008T>C
ENST00000683409.1:n.1740T>C
ENST00000683459.1:n.3720T>C
ENST00000683590.1:c.2897-5482T>C	ENSP00000506820.1:n.2897-5482T>C
ENST00000683623.1:c.3040T>C	ENSP00000507702.1:p.Leu1014=
ENST00000683645.1:n.3684T>C
ENST00000683796.1:c.*3005T>C	ENSP00000508221.1:n.*3005T>C
ENST00000683802.1:n.6058T>C
ENST00000683833.1:c.3124T>C	ENSP00000506852.1:p.Leu1042=
ENST00000683994.1:c.3133T>C	ENSP00000507181.1:p.Leu1045=
ENST00000684290.1:c.*669T>C	ENSP00000507243.1:n.*669T>C
ENST00000684306.1:c.*3046T>C	ENSP00000508384.1:n.*3046T>C
ENST00000684341.1:n.3153T>C
ENST00000684383.1:c.*2771T>C	ENSP00000506863.1:n.*2771T>C
ENST00000684619.1:c.*3005T>C	ENSP00000508088.1:n.*3005T>C
ENST00000684705.1:n.254T>C
ENST00000684743.1:n.4164T>C
ENST00000260665.12:c.3133T>C MANE Select	ENSP00000260665.7:p.Leu1045=
ENST00000260665.11:c.3133T>C	ENSP00000260665.7:p.Leu1045=
NM_133259.3:c.3133T>C	NP_573566.2:p.Leu1045=
XM_006711915.2:c.3055T>C	XP_006711978.1:p.Leu1019=
XM_006711916.2:c.3133T>C	XP_006711979.1:p.Leu1045=
XM_011532473.1:c.3133T>C	XP_011530775.1:p.Leu1045=
XM_011532474.1:c.3133T>C	XP_011530776.1:p.Leu1045=
XM_006711916.3:c.3133T>C	XP_006711979.1:p.Leu1045=
XM_017003117.1:c.3055T>C	XP_016858606.1:p.Leu1019=
XR_002958896.1:n.3175T>C
NM_133259.4:c.3133T>C MANE Select	NP_573566.2:p.Leu1045=