Canonical Allele Identifier: CA346674886

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894607-A-G
• MyVariant Identifiers: chr2:g.44121746A>G (hg19) ; chr2:g.43894607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894607A>G , CM000664.2:g.43894607A>G	GRCh38
NC_000002.11:g.44121746A>G , CM000664.1:g.44121746A>G	GRCh37
NC_000002.10:g.43975250A>G	NCBI36
NG_008247.1:g.106399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.553T>C
ENST00000681993.1:n.1475T>C
ENST00000682154.1:n.1357T>C
ENST00000682303.1:c.*3634T>C	ENSP00000508325.1:n.*3634T>C
ENST00000682308.1:c.3848T>C	ENSP00000507056.1:p.Leu1283Ser
ENST00000682434.1:n.3478T>C
ENST00000682480.1:c.3941T>C	ENSP00000508344.1:p.Leu1314Ser
ENST00000682546.1:c.3920T>C	ENSP00000508188.1:p.Leu1307Ser
ENST00000682585.1:c.*51T>C	ENSP00000506885.1:n.*51T>C
ENST00000682607.1:c.2666T>C
ENST00000682612.1:c.752+2027T>C
ENST00000682696.1:c.23T>C	ENSP00000508411.1:p.Leu8Ser
ENST00000682779.1:c.3914T>C	ENSP00000507947.1:p.Leu1305Ser
ENST00000682885.1:c.3878T>C	ENSP00000508036.1:p.Leu1293Ser
ENST00000682933.1:n.4123T>C
ENST00000683002.1:c.775T>C
ENST00000683072.1:n.4507T>C
ENST00000683080.1:n.1542T>C
ENST00000683096.1:n.2364T>C
ENST00000683125.1:c.4031T>C	ENSP00000507939.1:p.Leu1344Ser
ENST00000683213.1:c.3926T>C	ENSP00000507751.1:p.Leu1309Ser
ENST00000683220.1:c.3953T>C	ENSP00000507151.1:p.Leu1318Ser
ENST00000683329.1:n.4726T>C
ENST00000683346.1:c.*3798T>C	ENSP00000507458.1:n.*3798T>C
ENST00000683409.1:n.2455T>C
ENST00000683459.1:n.4510T>C
ENST00000683590.1:c.3596T>C	ENSP00000506820.1:p.Leu1199Ser
ENST00000683623.1:c.3830T>C	ENSP00000507702.1:p.Leu1277Ser
ENST00000683796.1:c.*3720T>C	ENSP00000508221.1:n.*3720T>C
ENST00000683833.1:c.3839T>C	ENSP00000506852.1:p.Leu1280Ser
ENST00000683994.1:c.*36T>C	ENSP00000507181.1:n.*36T>C
ENST00000684290.1:c.*1384T>C	ENSP00000507243.1:n.*1384T>C
ENST00000684306.1:c.*3836T>C	ENSP00000508384.1:n.*3836T>C
ENST00000684383.1:c.*3561T>C	ENSP00000506863.1:n.*3561T>C
ENST00000684418.1:n.5104T>C
ENST00000684433.1:n.307T>C
ENST00000684454.1:n.7787T>C
ENST00000684619.1:c.*3795T>C	ENSP00000508088.1:n.*3795T>C
ENST00000684743.1:n.6668T>C
ENST00000260665.12:c.3923T>C MANE Select	ENSP00000260665.7:p.Leu1308Ser
ENST00000260665.11:c.3923T>C	ENSP00000260665.7:p.Leu1308Ser
ENST00000419884.5:c.164T>C	ENSP00000414207.1:p.Leu55Ser
ENST00000463456.5:n.2966T>C
NM_133259.3:c.3923T>C	NP_573566.2:p.Leu1308Ser
XM_006711915.2:c.3845T>C	XP_006711978.1:p.Leu1282Ser
XM_011532473.1:c.3848T>C	XP_011530775.1:p.Leu1283Ser
XM_011532474.1:c.3923T>C	XP_011530776.1:p.Leu1308Ser
XM_017003117.1:c.3770T>C	XP_016858606.1:p.Leu1257Ser
XR_002958896.1:n.3965T>C
NM_133259.4:c.3923T>C MANE Select	NP_573566.2:p.Leu1308Ser