Canonical Allele Identifier: CA1638199

Gene: LRPPRC

Linked Data

• dbSNP Id: rs770008394
• ExAC: 2:44145189 A / C
• gnomAD v2: 2-44145189-A-C
• gnomAD v3: 2-43918050-A-C
• gnomAD v4: 2-43918050-A-C
• MyVariant Identifiers: chr2:g.44145189A>C (hg19) ; chr2:g.43918050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918050A>C , CM000664.2:g.43918050A>C	GRCh38
NC_000002.11:g.44145189A>C , CM000664.1:g.44145189A>C	GRCh37
NC_000002.10:g.43998693A>C	NCBI36
NG_008247.1:g.82956T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.675T>G
ENST00000682295.1:c.303+206T>G	ENSP00000507499.1:n.303+206T>G
ENST00000682303.1:c.*2909T>G	ENSP00000508325.1:n.*2909T>G
ENST00000682308.1:c.3123T>G	ENSP00000507056.1:p.Ile1041Met
ENST00000682480.1:c.3141T>G	ENSP00000508344.1:p.Ile1047Met
ENST00000682546.1:c.3120T>G	ENSP00000508188.1:p.Ile1040Met
ENST00000682585.1:c.3123T>G	ENSP00000506885.1:p.Ile1041Met
ENST00000682595.1:n.3707T>G
ENST00000682607.1:c.1541T>G
ENST00000682779.1:c.3114T>G	ENSP00000507947.1:p.Ile1038Met
ENST00000682845.1:n.2225T>G
ENST00000682885.1:c.3078T>G	ENSP00000508036.1:p.Ile1026Met
ENST00000682933.1:n.3197T>G
ENST00000683072.1:n.3707T>G
ENST00000683080.1:n.742T>G
ENST00000683125.1:c.3231T>G	ENSP00000507939.1:p.Ile1077Met
ENST00000683213.1:c.3126T>G	ENSP00000507751.1:p.Ile1042Met
ENST00000683220.1:c.3153T>G	ENSP00000507151.1:p.Ile1051Met
ENST00000683329.1:n.3926T>G
ENST00000683346.1:c.*2998T>G	ENSP00000507458.1:n.*2998T>G
ENST00000683409.1:n.1730T>G
ENST00000683459.1:n.3710T>G
ENST00000683590.1:c.2897-5492T>G	ENSP00000506820.1:n.2897-5492T>G
ENST00000683623.1:c.3030T>G	ENSP00000507702.1:p.Ile1010Met
ENST00000683645.1:n.3674T>G
ENST00000683796.1:c.*2995T>G	ENSP00000508221.1:n.*2995T>G
ENST00000683802.1:n.6048T>G
ENST00000683833.1:c.3114T>G	ENSP00000506852.1:p.Ile1038Met
ENST00000683994.1:c.3123T>G	ENSP00000507181.1:p.Ile1041Met
ENST00000684290.1:c.*659T>G	ENSP00000507243.1:n.*659T>G
ENST00000684306.1:c.*3036T>G	ENSP00000508384.1:n.*3036T>G
ENST00000684341.1:n.3143T>G
ENST00000684383.1:c.*2761T>G	ENSP00000506863.1:n.*2761T>G
ENST00000684619.1:c.*2995T>G	ENSP00000508088.1:n.*2995T>G
ENST00000684705.1:n.244T>G
ENST00000684743.1:n.4154T>G
ENST00000260665.12:c.3123T>G MANE Select	ENSP00000260665.7:p.Ile1041Met
ENST00000260665.11:c.3123T>G	ENSP00000260665.7:p.Ile1041Met
NM_133259.3:c.3123T>G	NP_573566.2:p.Ile1041Met
XM_006711915.2:c.3045T>G	XP_006711978.1:p.Ile1015Met
XM_006711916.2:c.3123T>G	XP_006711979.1:p.Ile1041Met
XM_011532473.1:c.3123T>G	XP_011530775.1:p.Ile1041Met
XM_011532474.1:c.3123T>G	XP_011530776.1:p.Ile1041Met
XM_006711916.3:c.3123T>G	XP_006711979.1:p.Ile1041Met
XM_017003117.1:c.3045T>G	XP_016858606.1:p.Ile1015Met
XR_002958896.1:n.3165T>G
NM_133259.4:c.3123T>G MANE Select	NP_573566.2:p.Ile1041Met