Canonical Allele Identifier: CA346668659

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918382-C-G
• MyVariant Identifiers: chr2:g.44145521C>G (hg19) ; chr2:g.43918382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918382C>G , CM000664.2:g.43918382C>G	GRCh38
NC_000002.11:g.44145521C>G , CM000664.1:g.44145521C>G	GRCh37
NC_000002.10:g.43999025C>G	NCBI36
NG_008247.1:g.82624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.465G>C
ENST00000682295.1:c.177G>C	ENSP00000507499.1:p.Trp59Cys
ENST00000682303.1:c.*2699G>C	ENSP00000508325.1:n.*2699G>C
ENST00000682308.1:c.2913G>C	ENSP00000507056.1:p.Trp971Cys
ENST00000682480.1:c.2913G>C	ENSP00000508344.1:p.Trp971Cys
ENST00000682546.1:c.2910G>C	ENSP00000508188.1:p.Trp970Cys
ENST00000682585.1:c.2913G>C	ENSP00000506885.1:p.Trp971Cys
ENST00000682595.1:n.3497G>C
ENST00000682607.1:c.1331G>C
ENST00000682779.1:c.2904G>C	ENSP00000507947.1:p.Trp968Cys
ENST00000682845.1:n.2015G>C
ENST00000682885.1:c.2868G>C	ENSP00000508036.1:p.Trp956Cys
ENST00000682933.1:n.2987G>C
ENST00000683072.1:n.3497G>C
ENST00000683080.1:n.532G>C
ENST00000683125.1:c.3021G>C	ENSP00000507939.1:p.Trp1007Cys
ENST00000683213.1:c.2916G>C	ENSP00000507751.1:p.Trp972Cys
ENST00000683220.1:c.2943G>C	ENSP00000507151.1:p.Trp981Cys
ENST00000683236.1:c.243G>C	ENSP00000506891.1:n.243G>C
ENST00000683329.1:n.3716G>C
ENST00000683346.1:c.*2788G>C	ENSP00000507458.1:n.*2788G>C
ENST00000683409.1:n.1520G>C
ENST00000683459.1:n.3500G>C
ENST00000683590.1:c.2897-5824G>C	ENSP00000506820.1:n.2897-5824G>C
ENST00000683623.1:c.2820G>C	ENSP00000507702.1:p.Trp940Cys
ENST00000683645.1:n.3464G>C
ENST00000683796.1:c.*2785G>C	ENSP00000508221.1:n.*2785G>C
ENST00000683802.1:n.5838G>C
ENST00000683833.1:c.2904G>C	ENSP00000506852.1:p.Trp968Cys
ENST00000683994.1:c.2913G>C	ENSP00000507181.1:p.Trp971Cys
ENST00000684290.1:c.*449G>C	ENSP00000507243.1:n.*449G>C
ENST00000684306.1:c.*2826G>C	ENSP00000508384.1:n.*2826G>C
ENST00000684341.1:n.2933G>C
ENST00000684383.1:c.*2551G>C	ENSP00000506863.1:n.*2551G>C
ENST00000684619.1:c.*2785G>C	ENSP00000508088.1:n.*2785G>C
ENST00000684705.1:n.34G>C
ENST00000684743.1:n.3944G>C
ENST00000260665.12:c.2913G>C MANE Select	ENSP00000260665.7:p.Trp971Cys
ENST00000260665.11:c.2913G>C	ENSP00000260665.7:p.Trp971Cys
NM_133259.3:c.2913G>C	NP_573566.2:p.Trp971Cys
XM_006711915.2:c.2835G>C	XP_006711978.1:p.Trp945Cys
XM_006711916.2:c.2913G>C	XP_006711979.1:p.Trp971Cys
XM_011532473.1:c.2913G>C	XP_011530775.1:p.Trp971Cys
XM_011532474.1:c.2913G>C	XP_011530776.1:p.Trp971Cys
XM_006711916.3:c.2913G>C	XP_006711979.1:p.Trp971Cys
XM_017003117.1:c.2835G>C	XP_016858606.1:p.Trp945Cys
XR_002958896.1:n.2955G>C
NM_133259.4:c.2913G>C MANE Select	NP_573566.2:p.Trp971Cys