Canonical Allele Identifier: CA346668194

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1464347923
• gnomAD v3: 2-43918096-G-A
• gnomAD v4: 2-43918096-G-A
• MyVariant Identifiers: chr2:g.44145235G>A (hg19) ; chr2:g.43918096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918096G>A , CM000664.2:g.43918096G>A	GRCh38
NC_000002.11:g.44145235G>A , CM000664.1:g.44145235G>A	GRCh37
NC_000002.10:g.43998739G>A	NCBI36
NG_008247.1:g.82910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.629C>T
ENST00000682295.1:c.303+160C>T	ENSP00000507499.1:n.303+160C>T
ENST00000682303.1:c.*2863C>T	ENSP00000508325.1:n.*2863C>T
ENST00000682308.1:c.3077C>T	ENSP00000507056.1:p.Ser1026Leu
ENST00000682480.1:c.3095C>T	ENSP00000508344.1:p.Ser1032Leu
ENST00000682546.1:c.3074C>T	ENSP00000508188.1:p.Ser1025Leu
ENST00000682585.1:c.3077C>T	ENSP00000506885.1:p.Ser1026Leu
ENST00000682595.1:n.3661C>T
ENST00000682607.1:c.1495C>T
ENST00000682779.1:c.3068C>T	ENSP00000507947.1:p.Ser1023Leu
ENST00000682845.1:n.2179C>T
ENST00000682885.1:c.3032C>T	ENSP00000508036.1:p.Ser1011Leu
ENST00000682933.1:n.3151C>T
ENST00000683072.1:n.3661C>T
ENST00000683080.1:n.696C>T
ENST00000683125.1:c.3185C>T	ENSP00000507939.1:p.Ser1062Leu
ENST00000683213.1:c.3080C>T	ENSP00000507751.1:p.Ser1027Leu
ENST00000683220.1:c.3107C>T	ENSP00000507151.1:p.Ser1036Leu
ENST00000683329.1:n.3880C>T
ENST00000683346.1:c.*2952C>T	ENSP00000507458.1:n.*2952C>T
ENST00000683409.1:n.1684C>T
ENST00000683459.1:n.3664C>T
ENST00000683590.1:c.2897-5538C>T	ENSP00000506820.1:n.2897-5538C>T
ENST00000683623.1:c.2984C>T	ENSP00000507702.1:p.Ser995Leu
ENST00000683645.1:n.3628C>T
ENST00000683796.1:c.*2949C>T	ENSP00000508221.1:n.*2949C>T
ENST00000683802.1:n.6002C>T
ENST00000683833.1:c.3068C>T	ENSP00000506852.1:p.Ser1023Leu
ENST00000683994.1:c.3077C>T	ENSP00000507181.1:p.Ser1026Leu
ENST00000684290.1:c.*613C>T	ENSP00000507243.1:n.*613C>T
ENST00000684306.1:c.*2990C>T	ENSP00000508384.1:n.*2990C>T
ENST00000684341.1:n.3097C>T
ENST00000684383.1:c.*2715C>T	ENSP00000506863.1:n.*2715C>T
ENST00000684619.1:c.*2949C>T	ENSP00000508088.1:n.*2949C>T
ENST00000684705.1:n.198C>T
ENST00000684743.1:n.4108C>T
ENST00000260665.12:c.3077C>T MANE Select	ENSP00000260665.7:p.Ser1026Leu
ENST00000260665.11:c.3077C>T	ENSP00000260665.7:p.Ser1026Leu
NM_133259.3:c.3077C>T	NP_573566.2:p.Ser1026Leu
XM_006711915.2:c.2999C>T	XP_006711978.1:p.Ser1000Leu
XM_006711916.2:c.3077C>T	XP_006711979.1:p.Ser1026Leu
XM_011532473.1:c.3077C>T	XP_011530775.1:p.Ser1026Leu
XM_011532474.1:c.3077C>T	XP_011530776.1:p.Ser1026Leu
XM_006711916.3:c.3077C>T	XP_006711979.1:p.Ser1026Leu
XM_017003117.1:c.2999C>T	XP_016858606.1:p.Ser1000Leu
XR_002958896.1:n.3119C>T
NM_133259.4:c.3077C>T MANE Select	NP_573566.2:p.Ser1026Leu