Canonical Allele Identifier: CA8858160

Gene: CYBC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82444070A>G , CM000679.2:g.82444070A>G	GRCh38
NC_000017.10:g.80401946A>G , CM000679.1:g.80401946A>G	GRCh37
NC_000017.9:g.77995235A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577696.6:c.498T>C	ENSP00000463215.2:p.Leu166=
ENST00000577707.6:n.669T>C
ENST00000578919.6:c.498T>C	ENSP00000464080.1:p.Leu166=
ENST00000579444.6:n.1155T>C
ENST00000579751.6:c.71+377T>C	ENSP00000462956.2:n.71+377T>C
ENST00000581196.6:c.126T>C	ENSP00000489034.1:p.Leu42=
ENST00000582438.2:c.71+377T>C	ENSP00000463840.2:n.71+377T>C
ENST00000582725.6:c.*367T>C	ENSP00000463306.1:n.*367T>C
ENST00000584408.6:c.*257T>C	ENSP00000462997.1:n.*257T>C
ENST00000585115.2:c.456T>C	ENSP00000513957.1:p.Leu152=
ENST00000698818.1:c.126T>C	ENSP00000513954.1:p.Leu42=
ENST00000698819.1:c.498T>C	ENSP00000513955.1:p.Leu166=
ENST00000698820.1:c.456T>C	ENSP00000513956.1:p.Leu152=
ENST00000698821.1:c.444-296T>C	ENSP00000513958.1:n.444-296T>C
ENST00000698822.1:c.*458T>C	ENSP00000513959.1:n.*458T>C
ENST00000698823.1:c.754-200T>C	ENSP00000513960.1:n.754-200T>C
ENST00000698824.1:c.443+377T>C	ENSP00000513961.1:n.443+377T>C
ENST00000698825.1:c.*181T>C	ENSP00000513962.1:n.*181T>C
ENST00000698826.1:c.682T>C	ENSP00000513963.1:n.682T>C
ENST00000698827.1:c.*181T>C	ENSP00000513964.1:n.*181T>C
ENST00000698828.1:c.*309T>C	ENSP00000513965.1:n.*309T>C
ENST00000698829.1:c.*257T>C	ENSP00000513966.1:n.*257T>C
ENST00000306645.10:c.498T>C MANE Select	ENSP00000307765.5:p.Leu166=
ENST00000306645.9:c.498T>C	ENSP00000307765.5:p.Leu166=
ENST00000336995.8:c.68T>C	ENSP00000337560.8:p.Leu23Ser
ENST00000342572.12:c.126T>C	ENSP00000342228.8:p.Leu42=
ENST00000434650.6:c.456T>C	ENSP00000401626.2:p.Leu152=
ENST00000437807.6:c.498T>C	ENSP00000388909.2:p.Leu166=
ENST00000536759.2:n.795T>C
ENST00000577436.5:c.456T>C	ENSP00000464633.1:p.Leu152=
ENST00000577732.5:c.498T>C	ENSP00000463228.1:p.Leu166=
ENST00000577888.5:c.*181T>C	ENSP00000462410.1:n.*181T>C
ENST00000578895.5:n.1728T>C
ENST00000578919.5:c.498T>C	ENSP00000464080.1:p.Leu166=
ENST00000579751.5:c.212+377T>C	ENSP00000462956.1:n.212+377T>C
ENST00000580560.5:c.126T>C	ENSP00000489494.1:p.Leu42=
ENST00000581196.5:c.126T>C	ENSP00000489034.1:p.Leu42=
ENST00000582438.1:c.82+377T>C
ENST00000582725.5:c.*367T>C	ENSP00000463306.1:n.*367T>C
ENST00000583617.5:c.444-248T>C	ENSP00000462515.1:n.444-248T>C
ENST00000584024.5:c.*181T>C	ENSP00000462346.1:n.*181T>C
ENST00000584503.5:c.126T>C	ENSP00000488983.1:p.Leu42=
ENST00000585044.5:n.2901T>C
ENST00000585064.5:c.498T>C	ENSP00000463846.1:p.Leu166=
ENST00000585080.5:c.498T>C	ENSP00000462529.1:p.Leu166=
NM_001033046.3:c.498T>C	NP_001028218.1:p.Leu166=
NM_001100407.2:c.498T>C	NP_001093877.1:p.Leu166=
NM_001100408.2:c.456T>C	NP_001093878.1:p.Leu152=
NM_001193653.1:c.498T>C	NP_001180582.1:p.Leu166=
NM_001193654.1:c.498T>C	NP_001180583.1:p.Leu166=
NM_001193655.1:c.498T>C	NP_001180584.1:p.Leu166=
NM_001193657.1:c.498T>C	NP_001180586.1:p.Leu166=
NR_036514.1:n.594T>C
NR_036516.1:n.545T>C
NR_036517.1:n.503T>C
NR_036518.1:n.429T>C
XM_006722293.2:c.456T>C	XP_006722356.1:p.Leu152=
XM_011523606.1:c.597T>C	XP_011521908.1:p.Leu199=
XM_006722293.3:c.456T>C	XP_006722356.1:p.Leu152=
XM_011523606.3:c.597T>C	XP_011521908.1:p.Leu199=
XM_017025073.2:c.555T>C	XP_016880562.1:p.Leu185=
XM_017025074.2:c.498T>C	XP_016880563.1:p.Leu166=
XM_017025076.1:c.498T>C	XP_016880565.1:p.Leu166=
XM_017025077.1:c.498T>C	XP_016880566.1:p.Leu166=
XM_017025078.2:c.456T>C	XP_016880567.1:p.Leu152=
NM_001033046.4:c.498T>C MANE Select	NP_001028218.1:p.Leu166=
NM_001100407.3:c.498T>C	NP_001093877.1:p.Leu166=
NM_001100408.3:c.456T>C	NP_001093878.1:p.Leu152=
NM_001193653.2:c.498T>C	NP_001180582.1:p.Leu166=
NM_001193654.2:c.498T>C	NP_001180583.1:p.Leu166=
NM_001193657.2:c.498T>C	NP_001180586.1:p.Leu166=
NR_036514.2:n.515T>C
NR_036516.2:n.466T>C
NR_036517.2:n.424T>C
NR_036518.2:n.350T>C
NM_001193655.2:c.498T>C	NP_001180584.1:p.Leu166=