Canonical Allele Identifier: CA2063607

Gene: NBEAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203113187C>T , CM000664.2:g.203113187C>T	GRCh38
NC_000002.11:g.203977910C>T , CM000664.1:g.203977910C>T	GRCh37
NC_000002.10:g.203686155C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001378026.1:c.2375C>T MANE Select	NP_001364955.1:p.Thr792Ile
ENST00000683969.1:c.2375C>T MANE Select	ENSP00000508055.1:p.Thr792Ile
NM_001114132.1:c.2288C>T	NP_001107604.1:p.Thr763Ile
NM_001114132.2:c.2288C>T	NP_001107604.1:p.Thr763Ile
ENST00000449802.5:c.2288C>T	ENSP00000399903.1:p.Thr763Ile
ENST00000681967.1:c.2206C>T	ENSP00000507195.1:n.2206C>T
ENST00000682108.1:c.2288C>T	ENSP00000507379.1:p.Thr763Ile
ENST00000683001.1:c.2288C>T	ENSP00000507558.1:p.Thr763Ile
ENST00000683338.1:c.2404C>T	ENSP00000506761.1:n.2404C>T
ENST00000684091.1:n.801C>T
XM_005246787.2:c.2288C>T	XP_005246844.1:p.Thr763Ile
XM_005246787.4:c.2288C>T	XP_005246844.1:p.Thr763Ile
XM_006712698.2:c.2375C>T	XP_006712761.1:p.Thr792Ile
XM_006712698.4:c.2375C>T	XP_006712761.1:p.Thr792Ile
XM_006712699.2:c.2375C>T	XP_006712762.1:p.Thr792Ile
XM_006712699.4:c.2375C>T	XP_006712762.1:p.Thr792Ile
XM_006712700.2:c.2375C>T	XP_006712763.1:p.Thr792Ile
XM_011511658.1:c.2375C>T	XP_011509960.1:p.Thr792Ile
XM_011511658.3:c.2375C>T	XP_011509960.1:p.Thr792Ile
XM_011511659.1:c.2375C>T	XP_011509961.1:p.Thr792Ile
XM_011511659.2:c.2375C>T	XP_011509961.1:p.Thr792Ile
XM_011511660.1:c.1961C>T	XP_011509962.1:p.Thr654Ile
XM_011511660.2:c.1961C>T	XP_011509962.1:p.Thr654Ile
XM_011511661.1:c.1658C>T	XP_011509963.1:p.Thr553Ile
XM_011511662.1:c.1328C>T	XP_011509964.1:p.Thr443Ile
XM_011511662.2:c.1328C>T	XP_011509964.1:p.Thr443Ile
XM_011511663.1:c.2375C>T	XP_011509965.1:p.Thr792Ile
XM_011511663.3:c.2375C>T	XP_011509965.1:p.Thr792Ile
XM_011511664.1:c.2375C>T	XP_011509966.1:p.Thr792Ile