Canonical Allele Identifier: CA1638204

Gene: LRPPRC

Linked Data

• dbSNP Id: rs762199903
• ExAC: 2:44145214 G / C
• gnomAD v2: 2-44145214-G-C
• gnomAD v3: 2-43918075-G-C
• gnomAD v4: 2-43918075-G-C
• MyVariant Identifiers: chr2:g.44145214G>C (hg19) ; chr2:g.43918075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918075G>C , CM000664.2:g.43918075G>C	GRCh38
NC_000002.11:g.44145214G>C , CM000664.1:g.44145214G>C	GRCh37
NC_000002.10:g.43998718G>C	NCBI36
NG_008247.1:g.82931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.650C>G
ENST00000682295.1:c.303+181C>G	ENSP00000507499.1:n.303+181C>G
ENST00000682303.1:c.*2884C>G	ENSP00000508325.1:n.*2884C>G
ENST00000682308.1:c.3098C>G	ENSP00000507056.1:p.Pro1033Arg
ENST00000682480.1:c.3116C>G	ENSP00000508344.1:p.Pro1039Arg
ENST00000682546.1:c.3095C>G	ENSP00000508188.1:p.Pro1032Arg
ENST00000682585.1:c.3098C>G	ENSP00000506885.1:p.Pro1033Arg
ENST00000682595.1:n.3682C>G
ENST00000682607.1:c.1516C>G
ENST00000682779.1:c.3089C>G	ENSP00000507947.1:p.Pro1030Arg
ENST00000682845.1:n.2200C>G
ENST00000682885.1:c.3053C>G	ENSP00000508036.1:p.Pro1018Arg
ENST00000682933.1:n.3172C>G
ENST00000683072.1:n.3682C>G
ENST00000683080.1:n.717C>G
ENST00000683125.1:c.3206C>G	ENSP00000507939.1:p.Pro1069Arg
ENST00000683213.1:c.3101C>G	ENSP00000507751.1:p.Pro1034Arg
ENST00000683220.1:c.3128C>G	ENSP00000507151.1:p.Pro1043Arg
ENST00000683329.1:n.3901C>G
ENST00000683346.1:c.*2973C>G	ENSP00000507458.1:n.*2973C>G
ENST00000683409.1:n.1705C>G
ENST00000683459.1:n.3685C>G
ENST00000683590.1:c.2897-5517C>G	ENSP00000506820.1:n.2897-5517C>G
ENST00000683623.1:c.3005C>G	ENSP00000507702.1:p.Pro1002Arg
ENST00000683645.1:n.3649C>G
ENST00000683796.1:c.*2970C>G	ENSP00000508221.1:n.*2970C>G
ENST00000683802.1:n.6023C>G
ENST00000683833.1:c.3089C>G	ENSP00000506852.1:p.Pro1030Arg
ENST00000683994.1:c.3098C>G	ENSP00000507181.1:p.Pro1033Arg
ENST00000684290.1:c.*634C>G	ENSP00000507243.1:n.*634C>G
ENST00000684306.1:c.*3011C>G	ENSP00000508384.1:n.*3011C>G
ENST00000684341.1:n.3118C>G
ENST00000684383.1:c.*2736C>G	ENSP00000506863.1:n.*2736C>G
ENST00000684619.1:c.*2970C>G	ENSP00000508088.1:n.*2970C>G
ENST00000684705.1:n.219C>G
ENST00000684743.1:n.4129C>G
ENST00000260665.12:c.3098C>G MANE Select	ENSP00000260665.7:p.Pro1033Arg
ENST00000260665.11:c.3098C>G	ENSP00000260665.7:p.Pro1033Arg
NM_133259.3:c.3098C>G	NP_573566.2:p.Pro1033Arg
XM_006711915.2:c.3020C>G	XP_006711978.1:p.Pro1007Arg
XM_006711916.2:c.3098C>G	XP_006711979.1:p.Pro1033Arg
XM_011532473.1:c.3098C>G	XP_011530775.1:p.Pro1033Arg
XM_011532474.1:c.3098C>G	XP_011530776.1:p.Pro1033Arg
XM_006711916.3:c.3098C>G	XP_006711979.1:p.Pro1033Arg
XM_017003117.1:c.3020C>G	XP_016858606.1:p.Pro1007Arg
XR_002958896.1:n.3140C>G
NM_133259.4:c.3098C>G MANE Select	NP_573566.2:p.Pro1033Arg