Canonical Allele Identifier: CA1321764470

Gene: NBEAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203016166T= , CM000664.2:g.203016166T=	GRCh38
NC_000002.11:g.203880889T= , CM000664.1:g.203880889T=	GRCh37
NC_000002.10:g.203589134T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463830.2:n.126T=
ENST00000682077.1:n.128T=
ENST00000682333.1:n.126T=
ENST00000682787.1:c.-219T=	ENSP00000507858.1:n.-219T=
ENST00000683091.1:c.-219T=	ENSP00000506951.1:n.-219T=
ENST00000683927.1:n.115T=
ENST00000683969.1:c.-219T= MANE Select	ENSP00000508055.1:n.-219T=
ENST00000449802.5:c.-219T=	ENSP00000399903.1:n.-219T=
ENST00000478884.5:n.69T=
ENST00000492870.1:n.85T=
ENST00000497505.5:n.115T=
NM_001114132.1:c.-219T=	NP_001107604.1:n.-219T=
XM_005246787.2:c.-219T=	XP_005246844.1:n.-219T=
XM_006712698.2:c.-219T=	XP_006712761.1:n.-219T=
XM_006712699.2:c.-219T=	XP_006712762.1:n.-219T=
XM_006712700.2:c.-219T=	XP_006712763.1:n.-219T=
XM_011511658.1:c.-219T=	XP_011509960.1:n.-219T=
XM_011511659.1:c.-219T=	XP_011509961.1:n.-219T=
XM_011511663.1:c.-219T=	XP_011509965.1:n.-219T=
XM_011511664.1:c.-219T=	XP_011509966.1:n.-219T=
XM_005246787.4:c.-219T=	XP_005246844.1:n.-219T=
XM_006712698.4:c.-219T=	XP_006712761.1:n.-219T=
XM_006712699.4:c.-219T=	XP_006712762.1:n.-219T=
XM_011511658.3:c.-219T=	XP_011509960.1:n.-219T=
XM_011511659.2:c.-219T=	XP_011509961.1:n.-219T=
XM_011511663.3:c.-219T=	XP_011509965.1:n.-219T=
NM_001114132.2:c.-219T=	NP_001107604.1:n.-219T=
NM_001378026.1:c.-219T= MANE Select	NP_001364955.1:n.-219T=