Canonical Allele Identifier: CA350377555

Gene: NBEAL1

Linked Data

• gnomAD v4: 2-203016422-T-C
• MyVariant Identifiers: chr2:g.203881145T>C (hg19) ; chr2:g.203016422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203016422T>C , CM000664.2:g.203016422T>C	GRCh38
NC_000002.11:g.203881145T>C , CM000664.1:g.203881145T>C	GRCh37
NC_000002.10:g.203589390T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463830.2:n.382T>C
ENST00000681967.1:c.38T>C	ENSP00000507195.1:p.Leu13Pro
ENST00000682077.1:n.384T>C
ENST00000682108.1:c.38T>C	ENSP00000507379.1:p.Leu13Pro
ENST00000682333.1:n.382T>C
ENST00000682787.1:c.38T>C	ENSP00000507858.1:p.Leu13Pro
ENST00000683001.1:c.38T>C	ENSP00000507558.1:p.Leu13Pro
ENST00000683091.1:c.38T>C	ENSP00000506951.1:p.Leu13Pro
ENST00000683338.1:c.38T>C	ENSP00000506761.1:p.Leu13Pro
ENST00000683927.1:n.371T>C
ENST00000683969.1:c.38T>C MANE Select	ENSP00000508055.1:p.Leu13Pro
ENST00000449802.5:c.38T>C	ENSP00000399903.1:p.Leu13Pro
ENST00000460416.2:n.58T>C
ENST00000478884.5:n.325T>C
ENST00000492870.1:n.341T>C
ENST00000497505.5:n.371T>C
NM_001114132.1:c.38T>C	NP_001107604.1:p.Leu13Pro
XM_005246787.2:c.38T>C	XP_005246844.1:p.Leu13Pro
XM_006712698.2:c.38T>C	XP_006712761.1:p.Leu13Pro
XM_006712699.2:c.38T>C	XP_006712762.1:p.Leu13Pro
XM_006712700.2:c.38T>C	XP_006712763.1:p.Leu13Pro
XM_011511658.1:c.38T>C	XP_011509960.1:p.Leu13Pro
XM_011511659.1:c.38T>C	XP_011509961.1:p.Leu13Pro
XM_011511663.1:c.38T>C	XP_011509965.1:p.Leu13Pro
XM_011511664.1:c.38T>C	XP_011509966.1:p.Leu13Pro
XM_005246787.4:c.38T>C	XP_005246844.1:p.Leu13Pro
XM_006712698.4:c.38T>C	XP_006712761.1:p.Leu13Pro
XM_006712699.4:c.38T>C	XP_006712762.1:p.Leu13Pro
XM_011511658.3:c.38T>C	XP_011509960.1:p.Leu13Pro
XM_011511659.2:c.38T>C	XP_011509961.1:p.Leu13Pro
XM_011511663.3:c.38T>C	XP_011509965.1:p.Leu13Pro
NM_001114132.2:c.38T>C	NP_001107604.1:p.Leu13Pro
NM_001378026.1:c.38T>C MANE Select	NP_001364955.1:p.Leu13Pro