Canonical Allele Identifier: CA341538872

Gene: CYB561D1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109495810T>C , CM000663.2:g.109495810T>C	GRCh38
NC_000001.10:g.110038432T>C , CM000663.1:g.110038432T>C	GRCh37
NC_000001.9:g.109839955T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182580.3:c.241T>C MANE Select	NP_872386.1:p.Phe81Leu
ENST00000420578.7:c.241T>C MANE Select	ENSP00000413530.2:p.Phe81Leu
NM_001134400.1:c.307T>C	NP_001127872.1:p.Phe103Leu
NM_001134400.2:c.307T>C	NP_001127872.1:p.Phe103Leu
NM_001134402.1:c.70T>C	NP_001127874.1:p.Phe24Leu
NM_001134402.2:c.70T>C	NP_001127874.1:p.Phe24Leu
NM_001134403.1:c.345T>C	NP_001127875.1:p.Cys115=
NM_001134403.2:c.345T>C	NP_001127875.1:p.Cys115=
NM_001134404.1:c.*35T>C	NP_001127876.1:n.*35T>C
NM_001134404.2:c.*35T>C	NP_001127876.1:n.*35T>C
NM_182580.2:c.241T>C	NP_872386.1:p.Phe81Leu
ENST00000310611.8:c.345T>C	ENSP00000309324.4:p.Cys115=
ENST00000369868.7:c.307T>C	ENSP00000358884.3:p.Phe103Leu
ENST00000393709.3:c.70T>C	ENSP00000377312.3:p.Phe24Leu
ENST00000420578.6:c.241T>C	ENSP00000413530.2:p.Phe81Leu
ENST00000430195.2:c.*35T>C	ENSP00000416898.2:n.*35T>C
ENST00000496961.5:c.*123T>C	ENSP00000435819.1:n.*123T>C
ENST00000527072.5:c.*35T>C	ENSP00000433095.1:n.*35T>C
ENST00000528785.1:c.241T>C	ENSP00000434344.1:p.Phe81Leu
ENST00000533024.5:c.108T>C	ENSP00000435802.1:p.Cys36=
XM_005270775.2:c.127T>C	XP_005270832.1:p.Phe43Leu
XM_005270776.2:c.67T>C	XP_005270833.1:p.Phe23Leu
XM_005270776.3:c.67T>C	XP_005270833.1:p.Phe23Leu
XM_005270777.2:c.43T>C	XP_005270834.1:p.Phe15Leu
XM_011541286.1:c.127T>C	XP_011539588.1:p.Phe43Leu
XM_011541286.2:c.127T>C	XP_011539588.1:p.Phe43Leu
XM_011541287.1:c.127T>C	XP_011539589.1:p.Phe43Leu
XM_011541287.3:c.424T>C	XP_011539589.2:p.Phe142Leu
XM_017001079.1:c.67T>C	XP_016856568.1:p.Phe23Leu