Canonical Allele Identifier: CA1638189

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2750626
• ClinVar RCV Id: RCV003563550
• dbSNP Id: rs754617597
• ExAC: 2:44145145 C / G
• gnomAD v2: 2-44145145-C-G
• gnomAD v4: 2-43918006-C-G
• MyVariant Identifiers: chr2:g.44145145C>G (hg19) ; chr2:g.43918006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918006C>G , CM000664.2:g.43918006C>G	GRCh38
NC_000002.11:g.44145145C>G , CM000664.1:g.44145145C>G	GRCh37
NC_000002.10:g.43998649C>G	NCBI36
NG_008247.1:g.83000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.700+19G>C
ENST00000682295.1:c.303+250G>C	ENSP00000507499.1:n.303+250G>C
ENST00000682303.1:c.*2934+19G>C	ENSP00000508325.1:n.*2934+19G>C
ENST00000682308.1:c.3148+19G>C	ENSP00000507056.1:n.3148+19G>C
ENST00000682480.1:c.3166+19G>C	ENSP00000508344.1:n.3166+19G>C
ENST00000682546.1:c.3145+19G>C	ENSP00000508188.1:n.3145+19G>C
ENST00000682585.1:c.3148+19G>C	ENSP00000506885.1:n.3148+19G>C
ENST00000682595.1:n.3732+19G>C
ENST00000682607.1:c.1566+19G>C
ENST00000682779.1:c.3139+19G>C	ENSP00000507947.1:n.3139+19G>C
ENST00000682845.1:n.2250+19G>C
ENST00000682885.1:c.3103+19G>C	ENSP00000508036.1:n.3103+19G>C
ENST00000682933.1:n.3222+19G>C
ENST00000683072.1:n.3732+19G>C
ENST00000683080.1:n.767+19G>C
ENST00000683125.1:c.3256+19G>C	ENSP00000507939.1:n.3256+19G>C
ENST00000683213.1:c.3151+19G>C	ENSP00000507751.1:n.3151+19G>C
ENST00000683220.1:c.3178+19G>C	ENSP00000507151.1:n.3178+19G>C
ENST00000683329.1:n.3951+19G>C
ENST00000683346.1:c.*3023+19G>C	ENSP00000507458.1:n.*3023+19G>C
ENST00000683409.1:n.1755+19G>C
ENST00000683459.1:n.3735+19G>C
ENST00000683590.1:c.2897-5448G>C	ENSP00000506820.1:n.2897-5448G>C
ENST00000683623.1:c.3055+19G>C	ENSP00000507702.1:n.3055+19G>C
ENST00000683645.1:n.3699+19G>C
ENST00000683796.1:c.*3020+19G>C	ENSP00000508221.1:n.*3020+19G>C
ENST00000683802.1:n.6073+19G>C
ENST00000683833.1:c.3139+19G>C	ENSP00000506852.1:n.3139+19G>C
ENST00000683994.1:c.3148+19G>C	ENSP00000507181.1:n.3148+19G>C
ENST00000684290.1:c.*684+19G>C	ENSP00000507243.1:n.*684+19G>C
ENST00000684306.1:c.*3061+19G>C	ENSP00000508384.1:n.*3061+19G>C
ENST00000684341.1:n.3168+19G>C
ENST00000684383.1:c.*2786+19G>C	ENSP00000506863.1:n.*2786+19G>C
ENST00000684619.1:c.*3020+19G>C	ENSP00000508088.1:n.*3020+19G>C
ENST00000684705.1:n.288G>C
ENST00000684743.1:n.4179+19G>C
ENST00000260665.12:c.3148+19G>C MANE Select	ENSP00000260665.7:n.3148+19G>C
ENST00000260665.11:c.3148+19G>C	ENSP00000260665.7:n.3148+19G>C
NM_133259.3:c.3148+19G>C	NP_573566.2:n.3148+19G>C
XM_006711915.2:c.3070+19G>C	XP_006711978.1:n.3070+19G>C
XM_006711916.2:c.3147+20G>C	XP_006711979.1:n.3147+20G>C
XM_011532473.1:c.3148+19G>C	XP_011530775.1:n.3148+19G>C
XM_011532474.1:c.3148+19G>C	XP_011530776.1:n.3148+19G>C
XM_006711916.3:c.3147+20G>C	XP_006711979.1:n.3147+20G>C
XM_017003117.1:c.3070+19G>C	XP_016858606.1:n.3070+19G>C
XR_002958896.1:n.3190+19G>C
NM_133259.4:c.3148+19G>C MANE Select	NP_573566.2:n.3148+19G>C