Canonical Allele Identifier: CA1637945

Gene: LRPPRC

Linked Data

• dbSNP Id: rs144285550
• ExAC: 2:44126396 C / G
• gnomAD v2: 2-44126396-C-G
• gnomAD v3: 2-43899257-C-G
• gnomAD v4: 2-43899257-C-G
• MyVariant Identifiers: chr2:g.44126396C>G (hg19) ; chr2:g.43899257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899257C>G , CM000664.2:g.43899257C>G	GRCh38
NC_000002.11:g.44126396C>G , CM000664.1:g.44126396C>G	GRCh37
NC_000002.10:g.43979900C>G	NCBI36
NG_008247.1:g.101749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.218G>C
ENST00000472420.6:n.866G>C
ENST00000483489.2:n.218G>C
ENST00000681993.1:n.1339G>C
ENST00000682303.1:c.*3573G>C	ENSP00000508325.1:n.*3573G>C
ENST00000682308.1:c.3787G>C	ENSP00000507056.1:p.Asp1263His
ENST00000682434.1:n.1338G>C
ENST00000682480.1:c.3805G>C	ENSP00000508344.1:p.Asp1269His
ENST00000682546.1:c.3784G>C	ENSP00000508188.1:p.Asp1262His
ENST00000682585.1:c.3787G>C	ENSP00000506885.1:p.Asp1263His
ENST00000682595.1:n.4371G>C
ENST00000682607.1:c.2205G>C
ENST00000682612.1:c.639G>C
ENST00000682779.1:c.3778G>C	ENSP00000507947.1:p.Asp1260His
ENST00000682845.1:n.2889G>C
ENST00000682885.1:c.3742G>C	ENSP00000508036.1:p.Asp1248His
ENST00000682933.1:n.3861G>C
ENST00000683002.1:c.639G>C
ENST00000683072.1:n.4371G>C
ENST00000683080.1:n.1406G>C
ENST00000683125.1:c.3895G>C	ENSP00000507939.1:p.Asp1299His
ENST00000683213.1:c.3790G>C	ENSP00000507751.1:p.Asp1264His
ENST00000683220.1:c.3817G>C	ENSP00000507151.1:p.Asp1273His
ENST00000683329.1:n.4590G>C
ENST00000683346.1:c.*3662G>C	ENSP00000507458.1:n.*3662G>C
ENST00000683409.1:n.2394G>C
ENST00000683459.1:n.4374G>C
ENST00000683528.1:c.715G>C
ENST00000683590.1:c.3535G>C	ENSP00000506820.1:p.Asp1179His
ENST00000683623.1:c.3694G>C	ENSP00000507702.1:p.Asp1232His
ENST00000683645.1:n.4338G>C
ENST00000683796.1:c.*3659G>C	ENSP00000508221.1:n.*3659G>C
ENST00000683802.1:n.6712G>C
ENST00000683833.1:c.3778G>C	ENSP00000506852.1:p.Asp1260His
ENST00000683994.1:c.3787G>C	ENSP00000507181.1:p.Asp1263His
ENST00000684290.1:c.*1323G>C	ENSP00000507243.1:n.*1323G>C
ENST00000684306.1:c.*3700G>C	ENSP00000508384.1:n.*3700G>C
ENST00000684341.1:n.3807G>C
ENST00000684383.1:c.*3425G>C	ENSP00000506863.1:n.*3425G>C
ENST00000684418.1:n.4968G>C
ENST00000684433.1:n.171G>C
ENST00000684454.1:n.3137G>C
ENST00000684619.1:c.*3659G>C	ENSP00000508088.1:n.*3659G>C
ENST00000684743.1:n.6532G>C
ENST00000260665.12:c.3787G>C MANE Select	ENSP00000260665.7:p.Asp1263His
ENST00000260665.11:c.3787G>C	ENSP00000260665.7:p.Asp1263His
ENST00000419884.5:c.28G>C	ENSP00000414207.1:p.Asp10His
ENST00000463456.5:n.2830G>C
ENST00000472420.5:n.184G>C
ENST00000483489.1:n.261G>C
NM_133259.3:c.3787G>C	NP_573566.2:p.Asp1263His
XM_006711915.2:c.3709G>C	XP_006711978.1:p.Asp1237His
XM_011532473.1:c.3787G>C	XP_011530775.1:p.Asp1263His
XM_011532474.1:c.3787G>C	XP_011530776.1:p.Asp1263His
XM_017003117.1:c.3709G>C	XP_016858606.1:p.Asp1237His
XR_002958896.1:n.3829G>C
NM_133259.4:c.3787G>C MANE Select	NP_573566.2:p.Asp1263His