Canonical Allele Identifier: CA346676708

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126452A>C (hg19) ; chr2:g.43899313A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899313A>C , CM000664.2:g.43899313A>C	GRCh38
NC_000002.11:g.44126452A>C , CM000664.1:g.44126452A>C	GRCh37
NC_000002.10:g.43979956A>C	NCBI36
NG_008247.1:g.101693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.162T>G
ENST00000472420.6:n.810T>G
ENST00000483489.2:n.162T>G
ENST00000681993.1:n.1283T>G
ENST00000682303.1:c.*3517T>G	ENSP00000508325.1:n.*3517T>G
ENST00000682308.1:c.3731T>G	ENSP00000507056.1:p.Leu1244Trp
ENST00000682434.1:n.1282T>G
ENST00000682480.1:c.3749T>G	ENSP00000508344.1:p.Leu1250Trp
ENST00000682546.1:c.3728T>G	ENSP00000508188.1:p.Leu1243Trp
ENST00000682585.1:c.3731T>G	ENSP00000506885.1:p.Leu1244Trp
ENST00000682595.1:n.4315T>G
ENST00000682607.1:c.2149T>G
ENST00000682612.1:c.583T>G
ENST00000682779.1:c.3722T>G	ENSP00000507947.1:p.Leu1241Trp
ENST00000682845.1:n.2833T>G
ENST00000682885.1:c.3686T>G	ENSP00000508036.1:p.Leu1229Trp
ENST00000682933.1:n.3805T>G
ENST00000683002.1:c.583T>G
ENST00000683072.1:n.4315T>G
ENST00000683080.1:n.1350T>G
ENST00000683125.1:c.3839T>G	ENSP00000507939.1:p.Leu1280Trp
ENST00000683213.1:c.3734T>G	ENSP00000507751.1:p.Leu1245Trp
ENST00000683220.1:c.3761T>G	ENSP00000507151.1:p.Leu1254Trp
ENST00000683329.1:n.4534T>G
ENST00000683346.1:c.*3606T>G	ENSP00000507458.1:n.*3606T>G
ENST00000683409.1:n.2338T>G
ENST00000683459.1:n.4318T>G
ENST00000683528.1:c.659T>G
ENST00000683590.1:c.3479T>G	ENSP00000506820.1:p.Leu1160Trp
ENST00000683623.1:c.3638T>G	ENSP00000507702.1:p.Leu1213Trp
ENST00000683645.1:n.4282T>G
ENST00000683796.1:c.*3603T>G	ENSP00000508221.1:n.*3603T>G
ENST00000683802.1:n.6656T>G
ENST00000683833.1:c.3722T>G	ENSP00000506852.1:p.Leu1241Trp
ENST00000683994.1:c.3731T>G	ENSP00000507181.1:p.Leu1244Trp
ENST00000684290.1:c.*1267T>G	ENSP00000507243.1:n.*1267T>G
ENST00000684306.1:c.*3644T>G	ENSP00000508384.1:n.*3644T>G
ENST00000684341.1:n.3751T>G
ENST00000684383.1:c.*3369T>G	ENSP00000506863.1:n.*3369T>G
ENST00000684418.1:n.4912T>G
ENST00000684433.1:n.115T>G
ENST00000684454.1:n.3081T>G
ENST00000684619.1:c.*3603T>G	ENSP00000508088.1:n.*3603T>G
ENST00000684743.1:n.6476T>G
ENST00000260665.12:c.3731T>G MANE Select	ENSP00000260665.7:p.Leu1244Trp
ENST00000260665.11:c.3731T>G	ENSP00000260665.7:p.Leu1244Trp
ENST00000463456.5:n.2774T>G
ENST00000472420.5:n.128T>G
ENST00000483489.1:n.205T>G
NM_133259.3:c.3731T>G	NP_573566.2:p.Leu1244Trp
XM_006711915.2:c.3653T>G	XP_006711978.1:p.Leu1218Trp
XM_011532473.1:c.3731T>G	XP_011530775.1:p.Leu1244Trp
XM_011532474.1:c.3731T>G	XP_011530776.1:p.Leu1244Trp
XM_017003117.1:c.3653T>G	XP_016858606.1:p.Leu1218Trp
XR_002958896.1:n.3773T>G
NM_133259.4:c.3731T>G MANE Select	NP_573566.2:p.Leu1244Trp