Canonical Allele Identifier: CA425909300

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899321-C-A
• MyVariant Identifiers: chr2:g.44126460C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899321C>A , CM000664.2:g.43899321C>A	GRCh38
NC_000002.11:g.44126460C>A , CM000664.1:g.44126460C>A	GRCh37
NC_000002.10:g.43979964C>A	NCBI36
NG_008247.1:g.101685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.154G>T
ENST00000472420.6:n.802G>T
ENST00000483489.2:n.154G>T
ENST00000681993.1:n.1275G>T
ENST00000682303.1:c.*3509G>T	ENSP00000508325.1:n.*3509G>T
ENST00000682308.1:c.3723G>T	ENSP00000507056.1:p.Ala1241=
ENST00000682434.1:n.1274G>T
ENST00000682480.1:c.3741G>T	ENSP00000508344.1:p.Ala1247=
ENST00000682546.1:c.3720G>T	ENSP00000508188.1:p.Ala1240=
ENST00000682585.1:c.3723G>T	ENSP00000506885.1:p.Ala1241=
ENST00000682595.1:n.4307G>T
ENST00000682607.1:c.2141G>T
ENST00000682612.1:c.575G>T
ENST00000682779.1:c.3714G>T	ENSP00000507947.1:p.Ala1238=
ENST00000682845.1:n.2825G>T
ENST00000682885.1:c.3678G>T	ENSP00000508036.1:p.Ala1226=
ENST00000682933.1:n.3797G>T
ENST00000683002.1:c.575G>T
ENST00000683072.1:n.4307G>T
ENST00000683080.1:n.1342G>T
ENST00000683125.1:c.3831G>T	ENSP00000507939.1:p.Ala1277=
ENST00000683213.1:c.3726G>T	ENSP00000507751.1:p.Ala1242=
ENST00000683220.1:c.3753G>T	ENSP00000507151.1:p.Ala1251=
ENST00000683329.1:n.4526G>T
ENST00000683346.1:c.*3598G>T	ENSP00000507458.1:n.*3598G>T
ENST00000683409.1:n.2330G>T
ENST00000683459.1:n.4310G>T
ENST00000683528.1:c.651G>T
ENST00000683590.1:c.3471G>T	ENSP00000506820.1:p.Ala1157=
ENST00000683623.1:c.3630G>T	ENSP00000507702.1:p.Ala1210=
ENST00000683645.1:n.4274G>T
ENST00000683796.1:c.*3595G>T	ENSP00000508221.1:n.*3595G>T
ENST00000683802.1:n.6648G>T
ENST00000683833.1:c.3714G>T	ENSP00000506852.1:p.Ala1238=
ENST00000683994.1:c.3723G>T	ENSP00000507181.1:p.Ala1241=
ENST00000684290.1:c.*1259G>T	ENSP00000507243.1:n.*1259G>T
ENST00000684306.1:c.*3636G>T	ENSP00000508384.1:n.*3636G>T
ENST00000684341.1:n.3743G>T
ENST00000684383.1:c.*3361G>T	ENSP00000506863.1:n.*3361G>T
ENST00000684418.1:n.4904G>T
ENST00000684433.1:n.107G>T
ENST00000684454.1:n.3073G>T
ENST00000684619.1:c.*3595G>T	ENSP00000508088.1:n.*3595G>T
ENST00000684743.1:n.6468G>T
ENST00000260665.12:c.3723G>T MANE Select	ENSP00000260665.7:p.Ala1241=
ENST00000260665.11:c.3723G>T	ENSP00000260665.7:p.Ala1241=
ENST00000463456.5:n.2766G>T
ENST00000472420.5:n.120G>T
ENST00000483489.1:n.197G>T
NM_133259.3:c.3723G>T	NP_573566.2:p.Ala1241=
XM_006711915.2:c.3645G>T	XP_006711978.1:p.Ala1215=
XM_011532473.1:c.3723G>T	XP_011530775.1:p.Ala1241=
XM_011532474.1:c.3723G>T	XP_011530776.1:p.Ala1241=
XM_017003117.1:c.3645G>T	XP_016858606.1:p.Ala1215=
XR_002958896.1:n.3765G>T
NM_133259.4:c.3723G>T MANE Select	NP_573566.2:p.Ala1241=