Canonical Allele Identifier: CA436104652

Gene: RBP1 COPB2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139539499A>G , CM000665.2:g.139539499A>G	GRCh38
NC_000003.11:g.139258341A>G , CM000665.1:g.139258341A>G	GRCh37
NC_000003.10:g.140741031A>G	NCBI36
NG_047073.1:g.5331T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002899.5:c.220T>C (RBP1) MANE Select	NP_002890.2:p.Leu74=
ENST00000672186.1:c.220T>C (RBP1) MANE Select	ENSP00000500931.1:p.Leu74=
NM_001130992.1:c.220T>C (RBP1)	NP_001124464.1:p.Leu74=
NM_001130992.2:c.220T>C (RBP1)	NP_001124464.1:p.Leu74=
NM_001130992.3:c.220T>C (RBP1)	NP_001124464.1:p.Leu74=
NM_001130993.1:c.220T>C (RBP1)	NP_001124465.1:p.Leu74=
NM_001130993.2:c.220T>C (RBP1)	NP_001124465.1:p.Leu74=
NM_001130993.3:c.220T>C (RBP1)	NP_001124465.1:p.Leu74=
NM_001365940.1:c.34T>C (RBP1)	NP_001352869.1:p.Leu12=
NM_001365940.2:c.34T>C (RBP1)	NP_001352869.1:p.Leu12=
NM_002899.3:c.220T>C (RBP1)	NP_002890.2:p.Leu74=
NM_002899.4:c.220T>C (RBP1)	NP_002890.2:p.Leu74=
NR_121609.1:n.355-38293A>G (COPB2-DT)
ENST00000232219.6:c.220T>C (RBP1)	ENSP00000232219.2:p.Leu74=
ENST00000483943.6:c.34T>C (RBP1)	ENSP00000424813.2:p.Leu12=
ENST00000487424.2:c.34T>C (RBP1)	ENSP00000427492.2:p.Leu12=
ENST00000492918.1:c.220T>C (RBP1)	ENSP00000429166.1:p.Leu74=
ENST00000617459.4:c.220T>C (RBP1)	ENSP00000477621.1:p.Leu74=
ENST00000619087.4:c.34T>C (RBP1)	ENSP00000482165.1:p.Leu12=
ENST00000619087.5:c.34T>C (RBP1)	ENSP00000482165.1:p.Leu12=