Canonical Allele Identifier: CA3246221

Gene: FYB1

Linked Data

• dbSNP Id: rs772416155
• ExAC: 5:39138781 C / T
• gnomAD v2: 5-39138781-C-T
• MyVariant Identifiers: chr5:g.39138781C>T (hg19) ; chr5:g.39138679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39138679C>T , CM000667.2:g.39138679C>T	GRCh38
NC_000005.9:g.39138781C>T , CM000667.1:g.39138781C>T	GRCh37
NC_000005.8:g.39174538C>T	NCBI36
NG_029596.1:g.136979G>A
NG_029596.2:g.136979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000351578.12:c.1372G>A	ENSP00000316460.7:p.Glu458Lys
ENST00000512982.4:c.1372G>A MANE Select	ENSP00000425845.3:p.Glu458Lys
ENST00000644817.1:n.1352G>A
ENST00000646045.2:c.1402G>A	ENSP00000493623.1:p.Glu468Lys
ENST00000351578.10:c.1372G>A	ENSP00000316460.7:p.Glu458Lys
ENST00000505428.5:c.1372G>A	ENSP00000427114.1:p.Glu458Lys
ENST00000512982.2:c.1402G>A	ENSP00000425845.2:p.Glu468Lys
ENST00000515010.5:c.1372G>A	ENSP00000426346.1:p.Glu458Lys
NM_001243093.1:c.1402G>A	NP_001230022.1:p.Glu468Lys
NM_001465.4:c.1372G>A	NP_001456.3:p.Glu458Lys
NM_199335.3:c.1372G>A	NP_955367.1:p.Glu458Lys
XM_006714464.2:c.1372G>A	XP_006714527.1:p.Glu458Lys
XM_006714465.2:c.1372G>A	XP_006714528.1:p.Glu458Lys
XM_006714466.2:c.1372G>A	XP_006714529.1:p.Glu458Lys
XM_011514008.1:c.1402G>A	XP_011512310.1:p.Glu468Lys
XM_011514009.1:c.1372G>A	XP_011512311.1:p.Glu458Lys
XM_011514010.1:c.1372G>A	XP_011512312.1:p.Glu458Lys
XM_011514011.1:c.1402G>A	XP_011512313.1:p.Glu468Lys
XM_011514012.1:c.1402G>A	XP_011512314.1:p.Glu468Lys
XM_011514013.1:c.1402G>A	XP_011512315.1:p.Glu468Lys
NM_001349333.1:c.1372G>A	NP_001336262.1:p.Glu458Lys
NM_001465.5:c.1372G>A	NP_001456.3:p.Glu458Lys
NM_018594.2:c.1402G>A	NP_061064.2:p.Glu468Lys
NM_199335.4:c.1372G>A	NP_955367.1:p.Glu458Lys
XM_006714464.3:c.1372G>A	XP_006714527.1:p.Glu458Lys
XM_011514008.3:c.1402G>A	XP_011512310.1:p.Glu468Lys
XM_011514011.2:c.1402G>A	XP_011512313.1:p.Glu468Lys
XM_011514012.3:c.1402G>A	XP_011512314.1:p.Glu468Lys
XM_011514013.3:c.1402G>A	XP_011512315.1:p.Glu468Lys
NM_001243093.2:c.1402G>A	NP_001230022.1:p.Glu468Lys
NM_001349333.2:c.1372G>A	NP_001336262.1:p.Glu458Lys
NM_001465.6:c.1372G>A MANE Select	NP_001456.3:p.Glu458Lys
NM_199335.5:c.1372G>A	NP_955367.1:p.Glu458Lys