Canonical Allele Identifier: CA10001005
Community Standard Title: NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32311711C>G , CM000683.2:g.32311711C>G GRCh38
NC_000021.8:g.33684022C>G , CM000683.1:g.33684022C>G GRCh37
NC_000021.7:g.32605893C>G NCBI36
NG_016234.1:g.24899C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001379228.1:c.234C>G (MRAP) MANE Select NP_001366157.1:p.Cys78Trp
NM_014825.3:c.*3207G>C (URB1) MANE Select NP_055640.2:n.*3207G>C
ENST00000303645.10:c.234C>G (MRAP) MANE Select ENSP00000306697.5:p.Cys78Trp
ENST00000382751.4:c.*3207G>C (URB1) MANE Select ENSP00000372199.3:n.*3207G>C
NM_001285394.1:c.57C>G (MRAP) NP_001272323.1:p.Cys19Trp
NM_001285394.2:c.57C>G (MRAP) NP_001272323.1:p.Cys19Trp
NM_014825.2:c.*3207G>C (URB1) NP_055640.2:n.*3207G>C
NM_178817.3:c.234C>G (MRAP) NP_848932.1:p.Cys78Trp
NM_178817.4:c.234C>G (MRAP) NP_848932.1:p.Cys78Trp
NM_206898.1:c.207-2840C>G (MRAP) NP_996781.1:n.207-2840C>G
NM_206898.2:c.207-2840C>G (MRAP) NP_996781.1:n.207-2840C>G
ENST00000303645.9:c.234C>G (MRAP) ENSP00000306697.5:p.Cys78Trp
ENST00000339944.4:c.207-2840C>G (MRAP) ENSP00000343661.4:n.207-2840C>G
ENST00000382751.3:c.*3207G>C (URB1) ENSP00000372199.3:n.*3207G>C
ENST00000399784.6:c.234C>G (MRAP) ENSP00000382684.2:p.Cys78Trp
ENST00000497833.1:n.305C>G (MRAP)
XM_006724028.2:c.234C>G (MRAP) XP_006724091.1:p.Cys78Trp
XM_006724028.3:c.234C>G (MRAP) XP_006724091.1:p.Cys78Trp
XM_017028407.1:c.207-2840C>G (MRAP) XP_016883896.1:n.207-2840C>G