Canonical Allele Identifier: CA346667946

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145184C>A (hg19) ; chr2:g.43918045C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918045C>A , CM000664.2:g.43918045C>A	GRCh38
NC_000002.11:g.44145184C>A , CM000664.1:g.44145184C>A	GRCh37
NC_000002.10:g.43998688C>A	NCBI36
NG_008247.1:g.82961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.680G>T
ENST00000682295.1:c.303+211G>T	ENSP00000507499.1:n.303+211G>T
ENST00000682303.1:c.*2914G>T	ENSP00000508325.1:n.*2914G>T
ENST00000682308.1:c.3128G>T	ENSP00000507056.1:p.Cys1043Phe
ENST00000682480.1:c.3146G>T	ENSP00000508344.1:p.Cys1049Phe
ENST00000682546.1:c.3125G>T	ENSP00000508188.1:p.Cys1042Phe
ENST00000682585.1:c.3128G>T	ENSP00000506885.1:p.Cys1043Phe
ENST00000682595.1:n.3712G>T
ENST00000682607.1:c.1546G>T
ENST00000682779.1:c.3119G>T	ENSP00000507947.1:p.Cys1040Phe
ENST00000682845.1:n.2230G>T
ENST00000682885.1:c.3083G>T	ENSP00000508036.1:p.Cys1028Phe
ENST00000682933.1:n.3202G>T
ENST00000683072.1:n.3712G>T
ENST00000683080.1:n.747G>T
ENST00000683125.1:c.3236G>T	ENSP00000507939.1:p.Cys1079Phe
ENST00000683213.1:c.3131G>T	ENSP00000507751.1:p.Cys1044Phe
ENST00000683220.1:c.3158G>T	ENSP00000507151.1:p.Cys1053Phe
ENST00000683329.1:n.3931G>T
ENST00000683346.1:c.*3003G>T	ENSP00000507458.1:n.*3003G>T
ENST00000683409.1:n.1735G>T
ENST00000683459.1:n.3715G>T
ENST00000683590.1:c.2897-5487G>T	ENSP00000506820.1:n.2897-5487G>T
ENST00000683623.1:c.3035G>T	ENSP00000507702.1:p.Cys1012Phe
ENST00000683645.1:n.3679G>T
ENST00000683796.1:c.*3000G>T	ENSP00000508221.1:n.*3000G>T
ENST00000683802.1:n.6053G>T
ENST00000683833.1:c.3119G>T	ENSP00000506852.1:p.Cys1040Phe
ENST00000683994.1:c.3128G>T	ENSP00000507181.1:p.Cys1043Phe
ENST00000684290.1:c.*664G>T	ENSP00000507243.1:n.*664G>T
ENST00000684306.1:c.*3041G>T	ENSP00000508384.1:n.*3041G>T
ENST00000684341.1:n.3148G>T
ENST00000684383.1:c.*2766G>T	ENSP00000506863.1:n.*2766G>T
ENST00000684619.1:c.*3000G>T	ENSP00000508088.1:n.*3000G>T
ENST00000684705.1:n.249G>T
ENST00000684743.1:n.4159G>T
ENST00000260665.12:c.3128G>T MANE Select	ENSP00000260665.7:p.Cys1043Phe
ENST00000260665.11:c.3128G>T	ENSP00000260665.7:p.Cys1043Phe
NM_133259.3:c.3128G>T	NP_573566.2:p.Cys1043Phe
XM_006711915.2:c.3050G>T	XP_006711978.1:p.Cys1017Phe
XM_006711916.2:c.3128G>T	XP_006711979.1:p.Cys1043Phe
XM_011532473.1:c.3128G>T	XP_011530775.1:p.Cys1043Phe
XM_011532474.1:c.3128G>T	XP_011530776.1:p.Cys1043Phe
XM_006711916.3:c.3128G>T	XP_006711979.1:p.Cys1043Phe
XM_017003117.1:c.3050G>T	XP_016858606.1:p.Cys1017Phe
XR_002958896.1:n.3170G>T
NM_133259.4:c.3128G>T MANE Select	NP_573566.2:p.Cys1043Phe