Canonical Allele Identifier: CA422808739

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396885T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427755T>G , CM000663.2:g.197427755T>G	GRCh38
NC_000001.10:g.197396885T>G , CM000663.1:g.197396885T>G	GRCh37
NC_000001.9:g.195663508T>G	NCBI36
NG_008483.1:g.164478T>G
NG_008483.2:g.231294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2430T>G MANE Select	ENSP00000356370.3:p.Ser810=
ENST00000638467.1:c.2430T>G	ENSP00000491102.1:p.Ser810=
ENST00000681519.1:c.1311T>G	ENSP00000505267.1:p.Ser437=
ENST00000367397.1:c.573T>G	ENSP00000356367.1:p.Ser191=
ENST00000367399.6:c.2094T>G	ENSP00000356369.2:p.Ser698=
ENST00000367400.7:c.2430T>G	ENSP00000356370.3:p.Ser810=
ENST00000480086.2:n.331T>G
ENST00000484075.5:c.2430T>G	ENSP00000433932.1:p.Ser810=
ENST00000535699.5:c.2223T>G	ENSP00000438786.1:p.Ser741=
ENST00000538660.5:c.2128+5799T>G	ENSP00000438091.1:n.2128+5799T>G
NM_001193640.1:c.2094T>G	NP_001180569.1:p.Ser698=
NM_001257965.1:c.2223T>G	NP_001244894.1:p.Ser741=
NM_001257966.1:c.2128+5799T>G	NP_001244895.1:n.2128+5799T>G
NM_201253.2:c.2430T>G	NP_957705.1:p.Ser810=
NR_047563.1:n.2431T>G
NR_047564.1:n.2639T>G
XM_011509365.1:c.2430T>G	XP_011507667.1:p.Ser810=
XM_011509366.1:c.2430T>G	XP_011507668.1:p.Ser810=
XM_011509367.1:c.2430T>G	XP_011507669.1:p.Ser810=
XM_011509368.1:c.1848T>G	XP_011507670.1:p.Ser616=
XM_011509369.1:c.873T>G	XP_011507671.1:p.Ser291=
XM_011509365.2:c.2430T>G	XP_011507667.1:p.Ser810=
XM_011509369.2:c.873T>G	XP_011507671.1:p.Ser291=
XM_017000851.1:c.1587T>G	XP_016856340.1:p.Ser529=
XM_017000852.1:c.2430T>G	XP_016856341.1:p.Ser810=
NM_201253.3:c.2430T>G MANE Select	NP_957705.1:p.Ser810=
NM_001193640.2:c.2094T>G	NP_001180569.1:p.Ser698=
NM_001257965.2:c.2223T>G	NP_001244894.1:p.Ser741=
NR_047563.2:n.2383T>G
NR_047564.2:n.2591T>G
NM_001257966.2:c.2128+5799T>G	NP_001244895.1:n.2128+5799T>G