Canonical Allele Identifier: CA425909245

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1087264
• ClinVar RCV Id: RCV001405303
• dbSNP Id: rs2104989133
• MyVariant Identifiers: chr2:g.44126367A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899228A>G , CM000664.2:g.43899228A>G	GRCh38
NC_000002.11:g.44126367A>G , CM000664.1:g.44126367A>G	GRCh37
NC_000002.10:g.43979871A>G	NCBI36
NG_008247.1:g.101778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.247T>C
ENST00000472420.6:n.895T>C
ENST00000483489.2:n.247T>C
ENST00000681993.1:n.1368T>C
ENST00000682303.1:c.*3602T>C	ENSP00000508325.1:n.*3602T>C
ENST00000682308.1:c.3816T>C	ENSP00000507056.1:p.Ala1272=
ENST00000682434.1:n.1367T>C
ENST00000682480.1:c.3834T>C	ENSP00000508344.1:p.Ala1278=
ENST00000682546.1:c.3813T>C	ENSP00000508188.1:p.Ala1271=
ENST00000682585.1:c.3816T>C	ENSP00000506885.1:p.Ala1272=
ENST00000682595.1:n.4400T>C
ENST00000682607.1:c.2234T>C
ENST00000682612.1:c.668T>C
ENST00000682779.1:c.3807T>C	ENSP00000507947.1:p.Ala1269=
ENST00000682885.1:c.3771T>C	ENSP00000508036.1:p.Ala1257=
ENST00000682933.1:n.3890T>C
ENST00000683002.1:c.668T>C
ENST00000683072.1:n.4400T>C
ENST00000683080.1:n.1435T>C
ENST00000683125.1:c.3924T>C	ENSP00000507939.1:p.Ala1308=
ENST00000683213.1:c.3819T>C	ENSP00000507751.1:p.Ala1273=
ENST00000683220.1:c.3846T>C	ENSP00000507151.1:p.Ala1282=
ENST00000683329.1:n.4619T>C
ENST00000683346.1:c.*3691T>C	ENSP00000507458.1:n.*3691T>C
ENST00000683409.1:n.2423T>C
ENST00000683459.1:n.4403T>C
ENST00000683528.1:c.744T>C
ENST00000683590.1:c.3564T>C	ENSP00000506820.1:p.Ala1188=
ENST00000683623.1:c.3723T>C	ENSP00000507702.1:p.Ala1241=
ENST00000683645.1:n.4367T>C
ENST00000683796.1:c.*3688T>C	ENSP00000508221.1:n.*3688T>C
ENST00000683833.1:c.3807T>C	ENSP00000506852.1:p.Ala1269=
ENST00000683994.1:c.3816T>C	ENSP00000507181.1:p.Ala1272=
ENST00000684290.1:c.*1352T>C	ENSP00000507243.1:n.*1352T>C
ENST00000684306.1:c.*3729T>C	ENSP00000508384.1:n.*3729T>C
ENST00000684341.1:n.3836T>C
ENST00000684383.1:c.*3454T>C	ENSP00000506863.1:n.*3454T>C
ENST00000684418.1:n.4997T>C
ENST00000684433.1:n.200T>C
ENST00000684454.1:n.3166T>C
ENST00000684619.1:c.*3688T>C	ENSP00000508088.1:n.*3688T>C
ENST00000684743.1:n.6561T>C
ENST00000260665.12:c.3816T>C MANE Select	ENSP00000260665.7:p.Ala1272=
ENST00000260665.11:c.3816T>C	ENSP00000260665.7:p.Ala1272=
ENST00000419884.5:c.57T>C	ENSP00000414207.1:p.Ala19=
ENST00000463456.5:n.2859T>C
ENST00000472420.5:n.213T>C
ENST00000483489.1:n.290T>C
NM_133259.3:c.3816T>C	NP_573566.2:p.Ala1272=
XM_006711915.2:c.3738T>C	XP_006711978.1:p.Ala1246=
XM_011532473.1:c.3816T>C	XP_011530775.1:p.Ala1272=
XM_011532474.1:c.3816T>C	XP_011530776.1:p.Ala1272=
XM_017003117.1:c.3738T>C	XP_016858606.1:p.Ala1246=
XR_002958896.1:n.3858T>C
NM_133259.4:c.3816T>C MANE Select	NP_573566.2:p.Ala1272=