Canonical Allele Identifier: CA425908530

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918104-C-A
• MyVariant Identifiers: chr2:g.44145243C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918104C>A , CM000664.2:g.43918104C>A	GRCh38
NC_000002.11:g.44145243C>A , CM000664.1:g.44145243C>A	GRCh37
NC_000002.10:g.43998747C>A	NCBI36
NG_008247.1:g.82902G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.621G>T
ENST00000682295.1:c.303+152G>T	ENSP00000507499.1:n.303+152G>T
ENST00000682303.1:c.*2855G>T	ENSP00000508325.1:n.*2855G>T
ENST00000682308.1:c.3069G>T	ENSP00000507056.1:p.Leu1023=
ENST00000682480.1:c.3087G>T	ENSP00000508344.1:p.Leu1029=
ENST00000682546.1:c.3066G>T	ENSP00000508188.1:p.Leu1022=
ENST00000682585.1:c.3069G>T	ENSP00000506885.1:p.Leu1023=
ENST00000682595.1:n.3653G>T
ENST00000682607.1:c.1487G>T
ENST00000682779.1:c.3060G>T	ENSP00000507947.1:p.Leu1020=
ENST00000682845.1:n.2171G>T
ENST00000682885.1:c.3024G>T	ENSP00000508036.1:p.Leu1008=
ENST00000682933.1:n.3143G>T
ENST00000683072.1:n.3653G>T
ENST00000683080.1:n.688G>T
ENST00000683125.1:c.3177G>T	ENSP00000507939.1:p.Leu1059=
ENST00000683213.1:c.3072G>T	ENSP00000507751.1:p.Leu1024=
ENST00000683220.1:c.3099G>T	ENSP00000507151.1:p.Leu1033=
ENST00000683329.1:n.3872G>T
ENST00000683346.1:c.*2944G>T	ENSP00000507458.1:n.*2944G>T
ENST00000683409.1:n.1676G>T
ENST00000683459.1:n.3656G>T
ENST00000683590.1:c.2897-5546G>T	ENSP00000506820.1:n.2897-5546G>T
ENST00000683623.1:c.2976G>T	ENSP00000507702.1:p.Leu992=
ENST00000683645.1:n.3620G>T
ENST00000683796.1:c.*2941G>T	ENSP00000508221.1:n.*2941G>T
ENST00000683802.1:n.5994G>T
ENST00000683833.1:c.3060G>T	ENSP00000506852.1:p.Leu1020=
ENST00000683994.1:c.3069G>T	ENSP00000507181.1:p.Leu1023=
ENST00000684290.1:c.*605G>T	ENSP00000507243.1:n.*605G>T
ENST00000684306.1:c.*2982G>T	ENSP00000508384.1:n.*2982G>T
ENST00000684341.1:n.3089G>T
ENST00000684383.1:c.*2707G>T	ENSP00000506863.1:n.*2707G>T
ENST00000684619.1:c.*2941G>T	ENSP00000508088.1:n.*2941G>T
ENST00000684705.1:n.190G>T
ENST00000684743.1:n.4100G>T
ENST00000260665.12:c.3069G>T MANE Select	ENSP00000260665.7:p.Leu1023=
ENST00000260665.11:c.3069G>T	ENSP00000260665.7:p.Leu1023=
NM_133259.3:c.3069G>T	NP_573566.2:p.Leu1023=
XM_006711915.2:c.2991G>T	XP_006711978.1:p.Leu997=
XM_006711916.2:c.3069G>T	XP_006711979.1:p.Leu1023=
XM_011532473.1:c.3069G>T	XP_011530775.1:p.Leu1023=
XM_011532474.1:c.3069G>T	XP_011530776.1:p.Leu1023=
XM_006711916.3:c.3069G>T	XP_006711979.1:p.Leu1023=
XM_017003117.1:c.2991G>T	XP_016858606.1:p.Leu997=
XR_002958896.1:n.3111G>T
NM_133259.4:c.3069G>T MANE Select	NP_573566.2:p.Leu1023=