Canonical Allele Identifier: CA346668104

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145215G>C (hg19) ; chr2:g.43918076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918076G>C , CM000664.2:g.43918076G>C	GRCh38
NC_000002.11:g.44145215G>C , CM000664.1:g.44145215G>C	GRCh37
NC_000002.10:g.43998719G>C	NCBI36
NG_008247.1:g.82930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.649C>G
ENST00000682295.1:c.303+180C>G	ENSP00000507499.1:n.303+180C>G
ENST00000682303.1:c.*2883C>G	ENSP00000508325.1:n.*2883C>G
ENST00000682308.1:c.3097C>G	ENSP00000507056.1:p.Pro1033Ala
ENST00000682480.1:c.3115C>G	ENSP00000508344.1:p.Pro1039Ala
ENST00000682546.1:c.3094C>G	ENSP00000508188.1:p.Pro1032Ala
ENST00000682585.1:c.3097C>G	ENSP00000506885.1:p.Pro1033Ala
ENST00000682595.1:n.3681C>G
ENST00000682607.1:c.1515C>G
ENST00000682779.1:c.3088C>G	ENSP00000507947.1:p.Pro1030Ala
ENST00000682845.1:n.2199C>G
ENST00000682885.1:c.3052C>G	ENSP00000508036.1:p.Pro1018Ala
ENST00000682933.1:n.3171C>G
ENST00000683072.1:n.3681C>G
ENST00000683080.1:n.716C>G
ENST00000683125.1:c.3205C>G	ENSP00000507939.1:p.Pro1069Ala
ENST00000683213.1:c.3100C>G	ENSP00000507751.1:p.Pro1034Ala
ENST00000683220.1:c.3127C>G	ENSP00000507151.1:p.Pro1043Ala
ENST00000683329.1:n.3900C>G
ENST00000683346.1:c.*2972C>G	ENSP00000507458.1:n.*2972C>G
ENST00000683409.1:n.1704C>G
ENST00000683459.1:n.3684C>G
ENST00000683590.1:c.2897-5518C>G	ENSP00000506820.1:n.2897-5518C>G
ENST00000683623.1:c.3004C>G	ENSP00000507702.1:p.Pro1002Ala
ENST00000683645.1:n.3648C>G
ENST00000683796.1:c.*2969C>G	ENSP00000508221.1:n.*2969C>G
ENST00000683802.1:n.6022C>G
ENST00000683833.1:c.3088C>G	ENSP00000506852.1:p.Pro1030Ala
ENST00000683994.1:c.3097C>G	ENSP00000507181.1:p.Pro1033Ala
ENST00000684290.1:c.*633C>G	ENSP00000507243.1:n.*633C>G
ENST00000684306.1:c.*3010C>G	ENSP00000508384.1:n.*3010C>G
ENST00000684341.1:n.3117C>G
ENST00000684383.1:c.*2735C>G	ENSP00000506863.1:n.*2735C>G
ENST00000684619.1:c.*2969C>G	ENSP00000508088.1:n.*2969C>G
ENST00000684705.1:n.218C>G
ENST00000684743.1:n.4128C>G
ENST00000260665.12:c.3097C>G MANE Select	ENSP00000260665.7:p.Pro1033Ala
ENST00000260665.11:c.3097C>G	ENSP00000260665.7:p.Pro1033Ala
NM_133259.3:c.3097C>G	NP_573566.2:p.Pro1033Ala
XM_006711915.2:c.3019C>G	XP_006711978.1:p.Pro1007Ala
XM_006711916.2:c.3097C>G	XP_006711979.1:p.Pro1033Ala
XM_011532473.1:c.3097C>G	XP_011530775.1:p.Pro1033Ala
XM_011532474.1:c.3097C>G	XP_011530776.1:p.Pro1033Ala
XM_006711916.3:c.3097C>G	XP_006711979.1:p.Pro1033Ala
XM_017003117.1:c.3019C>G	XP_016858606.1:p.Pro1007Ala
XR_002958896.1:n.3139C>G
NM_133259.4:c.3097C>G MANE Select	NP_573566.2:p.Pro1033Ala