Canonical Allele Identifier: CA46441845

Gene: LRPPRC

Linked Data

• dbSNP Id: rs772732813
• gnomAD v4: 2-43918239-A-G
• MyVariant Identifiers: chr2:g.44145378A>G (hg19) ; chr2:g.43918239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918239A>G , CM000664.2:g.43918239A>G	GRCh38
NC_000002.11:g.44145378A>G , CM000664.1:g.44145378A>G	GRCh37
NC_000002.10:g.43998882A>G	NCBI36
NG_008247.1:g.82767T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.591+17T>C
ENST00000682295.1:c.303+17T>C	ENSP00000507499.1:n.303+17T>C
ENST00000682303.1:c.*2825+17T>C	ENSP00000508325.1:n.*2825+17T>C
ENST00000682308.1:c.3039+17T>C	ENSP00000507056.1:n.3039+17T>C
ENST00000682480.1:c.3039+17T>C	ENSP00000508344.1:n.3039+17T>C
ENST00000682546.1:c.3036+17T>C	ENSP00000508188.1:n.3036+17T>C
ENST00000682585.1:c.3039+17T>C	ENSP00000506885.1:n.3039+17T>C
ENST00000682595.1:n.3623+17T>C
ENST00000682607.1:c.1457+17T>C
ENST00000682779.1:c.3030+17T>C	ENSP00000507947.1:n.3030+17T>C
ENST00000682845.1:n.2141+17T>C
ENST00000682885.1:c.2994+17T>C	ENSP00000508036.1:n.2994+17T>C
ENST00000682933.1:n.3113+17T>C
ENST00000683072.1:n.3623+17T>C
ENST00000683080.1:n.658+17T>C
ENST00000683125.1:c.3147+17T>C	ENSP00000507939.1:n.3147+17T>C
ENST00000683213.1:c.3042+17T>C	ENSP00000507751.1:n.3042+17T>C
ENST00000683220.1:c.3069+17T>C	ENSP00000507151.1:n.3069+17T>C
ENST00000683329.1:n.3842+17T>C
ENST00000683346.1:c.*2914+17T>C	ENSP00000507458.1:n.*2914+17T>C
ENST00000683409.1:n.1646+17T>C
ENST00000683459.1:n.3626+17T>C
ENST00000683590.1:c.2897-5681T>C	ENSP00000506820.1:n.2897-5681T>C
ENST00000683623.1:c.2946+17T>C	ENSP00000507702.1:n.2946+17T>C
ENST00000683645.1:n.3590+17T>C
ENST00000683796.1:c.*2911+17T>C	ENSP00000508221.1:n.*2911+17T>C
ENST00000683802.1:n.5964+17T>C
ENST00000683833.1:c.3030+17T>C	ENSP00000506852.1:n.3030+17T>C
ENST00000683994.1:c.3039+17T>C	ENSP00000507181.1:n.3039+17T>C
ENST00000684290.1:c.*575+17T>C	ENSP00000507243.1:n.*575+17T>C
ENST00000684306.1:c.*2952+17T>C	ENSP00000508384.1:n.*2952+17T>C
ENST00000684341.1:n.3059+17T>C
ENST00000684383.1:c.*2677+17T>C	ENSP00000506863.1:n.*2677+17T>C
ENST00000684619.1:c.*2911+17T>C	ENSP00000508088.1:n.*2911+17T>C
ENST00000684705.1:n.160+17T>C
ENST00000684743.1:n.4070+17T>C
ENST00000260665.12:c.3039+17T>C MANE Select	ENSP00000260665.7:n.3039+17T>C
ENST00000260665.11:c.3039+17T>C	ENSP00000260665.7:n.3039+17T>C
NM_133259.3:c.3039+17T>C	NP_573566.2:n.3039+17T>C
XM_006711915.2:c.2961+17T>C	XP_006711978.1:n.2961+17T>C
XM_006711916.2:c.3039+17T>C	XP_006711979.1:n.3039+17T>C
XM_011532473.1:c.3039+17T>C	XP_011530775.1:n.3039+17T>C
XM_011532474.1:c.3039+17T>C	XP_011530776.1:n.3039+17T>C
XM_006711916.3:c.3039+17T>C	XP_006711979.1:n.3039+17T>C
XM_017003117.1:c.2961+17T>C	XP_016858606.1:n.2961+17T>C
XR_002958896.1:n.3081+17T>C
NM_133259.4:c.3039+17T>C MANE Select	NP_573566.2:n.3039+17T>C