Canonical Allele Identifier: CA350377400

Gene: NBEAL1

Linked Data

• dbSNP Id: rs1409490883
• gnomAD v2: 2-203881126-C-T
• gnomAD v4: 2-203016403-C-T
• MyVariant Identifiers: chr2:g.203881126C>T (hg19) ; chr2:g.203016403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203016403C>T , CM000664.2:g.203016403C>T	GRCh38
NC_000002.11:g.203881126C>T , CM000664.1:g.203881126C>T	GRCh37
NC_000002.10:g.203589371C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463830.2:n.363C>T
ENST00000681967.1:c.19C>T	ENSP00000507195.1:p.Leu7Phe
ENST00000682077.1:n.365C>T
ENST00000682108.1:c.19C>T	ENSP00000507379.1:p.Leu7Phe
ENST00000682333.1:n.363C>T
ENST00000682787.1:c.19C>T	ENSP00000507858.1:p.Leu7Phe
ENST00000683001.1:c.19C>T	ENSP00000507558.1:p.Leu7Phe
ENST00000683091.1:c.19C>T	ENSP00000506951.1:p.Leu7Phe
ENST00000683338.1:c.19C>T	ENSP00000506761.1:p.Leu7Phe
ENST00000683927.1:n.352C>T
ENST00000683969.1:c.19C>T MANE Select	ENSP00000508055.1:p.Leu7Phe
ENST00000449802.5:c.19C>T	ENSP00000399903.1:p.Leu7Phe
ENST00000460416.2:n.39C>T
ENST00000478884.5:n.306C>T
ENST00000492870.1:n.322C>T
ENST00000497505.5:n.352C>T
NM_001114132.1:c.19C>T	NP_001107604.1:p.Leu7Phe
XM_005246787.2:c.19C>T	XP_005246844.1:p.Leu7Phe
XM_006712698.2:c.19C>T	XP_006712761.1:p.Leu7Phe
XM_006712699.2:c.19C>T	XP_006712762.1:p.Leu7Phe
XM_006712700.2:c.19C>T	XP_006712763.1:p.Leu7Phe
XM_011511658.1:c.19C>T	XP_011509960.1:p.Leu7Phe
XM_011511659.1:c.19C>T	XP_011509961.1:p.Leu7Phe
XM_011511663.1:c.19C>T	XP_011509965.1:p.Leu7Phe
XM_011511664.1:c.19C>T	XP_011509966.1:p.Leu7Phe
XM_005246787.4:c.19C>T	XP_005246844.1:p.Leu7Phe
XM_006712698.4:c.19C>T	XP_006712761.1:p.Leu7Phe
XM_006712699.4:c.19C>T	XP_006712762.1:p.Leu7Phe
XM_011511658.3:c.19C>T	XP_011509960.1:p.Leu7Phe
XM_011511659.2:c.19C>T	XP_011509961.1:p.Leu7Phe
XM_011511663.3:c.19C>T	XP_011509965.1:p.Leu7Phe
NM_001114132.2:c.19C>T	NP_001107604.1:p.Leu7Phe
NM_001378026.1:c.19C>T MANE Select	NP_001364955.1:p.Leu7Phe