Canonical Allele Identifier: CA346676475

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899259-A-G
• MyVariant Identifiers: chr2:g.44126398A>G (hg19) ; chr2:g.43899259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899259A>G , CM000664.2:g.43899259A>G	GRCh38
NC_000002.11:g.44126398A>G , CM000664.1:g.44126398A>G	GRCh37
NC_000002.10:g.43979902A>G	NCBI36
NG_008247.1:g.101747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.216T>C
ENST00000472420.6:n.864T>C
ENST00000483489.2:n.216T>C
ENST00000681993.1:n.1337T>C
ENST00000682303.1:c.*3571T>C	ENSP00000508325.1:n.*3571T>C
ENST00000682308.1:c.3785T>C	ENSP00000507056.1:p.Val1262Ala
ENST00000682434.1:n.1336T>C
ENST00000682480.1:c.3803T>C	ENSP00000508344.1:p.Val1268Ala
ENST00000682546.1:c.3782T>C	ENSP00000508188.1:p.Val1261Ala
ENST00000682585.1:c.3785T>C	ENSP00000506885.1:p.Val1262Ala
ENST00000682595.1:n.4369T>C
ENST00000682607.1:c.2203T>C
ENST00000682612.1:c.637T>C
ENST00000682779.1:c.3776T>C	ENSP00000507947.1:p.Val1259Ala
ENST00000682845.1:n.2887T>C
ENST00000682885.1:c.3740T>C	ENSP00000508036.1:p.Val1247Ala
ENST00000682933.1:n.3859T>C
ENST00000683002.1:c.637T>C
ENST00000683072.1:n.4369T>C
ENST00000683080.1:n.1404T>C
ENST00000683125.1:c.3893T>C	ENSP00000507939.1:p.Val1298Ala
ENST00000683213.1:c.3788T>C	ENSP00000507751.1:p.Val1263Ala
ENST00000683220.1:c.3815T>C	ENSP00000507151.1:p.Val1272Ala
ENST00000683329.1:n.4588T>C
ENST00000683346.1:c.*3660T>C	ENSP00000507458.1:n.*3660T>C
ENST00000683409.1:n.2392T>C
ENST00000683459.1:n.4372T>C
ENST00000683528.1:c.713T>C
ENST00000683590.1:c.3533T>C	ENSP00000506820.1:p.Val1178Ala
ENST00000683623.1:c.3692T>C	ENSP00000507702.1:p.Val1231Ala
ENST00000683645.1:n.4336T>C
ENST00000683796.1:c.*3657T>C	ENSP00000508221.1:n.*3657T>C
ENST00000683802.1:n.6710T>C
ENST00000683833.1:c.3776T>C	ENSP00000506852.1:p.Val1259Ala
ENST00000683994.1:c.3785T>C	ENSP00000507181.1:p.Val1262Ala
ENST00000684290.1:c.*1321T>C	ENSP00000507243.1:n.*1321T>C
ENST00000684306.1:c.*3698T>C	ENSP00000508384.1:n.*3698T>C
ENST00000684341.1:n.3805T>C
ENST00000684383.1:c.*3423T>C	ENSP00000506863.1:n.*3423T>C
ENST00000684418.1:n.4966T>C
ENST00000684433.1:n.169T>C
ENST00000684454.1:n.3135T>C
ENST00000684619.1:c.*3657T>C	ENSP00000508088.1:n.*3657T>C
ENST00000684743.1:n.6530T>C
ENST00000260665.12:c.3785T>C MANE Select	ENSP00000260665.7:p.Val1262Ala
ENST00000260665.11:c.3785T>C	ENSP00000260665.7:p.Val1262Ala
ENST00000419884.5:c.26T>C	ENSP00000414207.1:p.Val9Ala
ENST00000463456.5:n.2828T>C
ENST00000472420.5:n.182T>C
ENST00000483489.1:n.259T>C
NM_133259.3:c.3785T>C	NP_573566.2:p.Val1262Ala
XM_006711915.2:c.3707T>C	XP_006711978.1:p.Val1236Ala
XM_011532473.1:c.3785T>C	XP_011530775.1:p.Val1262Ala
XM_011532474.1:c.3785T>C	XP_011530776.1:p.Val1262Ala
XM_017003117.1:c.3707T>C	XP_016858606.1:p.Val1236Ala
XR_002958896.1:n.3827T>C
NM_133259.4:c.3785T>C MANE Select	NP_573566.2:p.Val1262Ala