Canonical Allele Identifier: CA422677581

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446952C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477822C>G , CM000663.2:g.197477822C>G	GRCh38
NC_000001.10:g.197446952C>G , CM000663.1:g.197446952C>G	GRCh37
NC_000001.9:g.195713575C>G	NCBI36
NG_008483.1:g.214545C>G
NG_008483.2:g.281361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4164C>G MANE Select	ENSP00000356370.3:p.Gly1388=
ENST00000367399.6:c.3828C>G	ENSP00000356369.2:p.Gly1276=
ENST00000367400.7:c.4164C>G	ENSP00000356370.3:p.Gly1388=
ENST00000448952.1:c.398C>G	ENSP00000395407.1:n.398C>G
ENST00000484075.5:c.*275C>G	ENSP00000433932.1:n.*275C>G
ENST00000535699.5:c.4092C>G	ENSP00000438786.1:p.Gly1364=
ENST00000538660.5:c.2556C>G	ENSP00000438091.1:p.Gly852=
NM_001193640.1:c.3828C>G	NP_001180569.1:p.Gly1276=
NM_001257965.1:c.4092C>G	NP_001244894.1:p.Gly1364=
NM_001257966.1:c.2556C>G	NP_001244895.1:p.Gly852=
NM_201253.2:c.4164C>G	NP_957705.1:p.Gly1388=
NR_047563.1:n.4165C>G
NR_047564.1:n.4615C>G
XM_011509366.1:c.*269C>G	XP_011507668.1:n.*269C>G
XM_011509367.1:c.*143C>G	XP_011507669.1:n.*143C>G
XM_011509368.1:c.3582C>G	XP_011507670.1:p.Gly1194=
XM_011509369.1:c.2607C>G	XP_011507671.1:p.Gly869=
XM_011509369.2:c.2607C>G	XP_011507671.1:p.Gly869=
XM_017000851.1:c.3321C>G	XP_016856340.1:p.Gly1107=
XM_017000852.1:c.4299C>G	XP_016856341.1:p.Gly1433=
NM_201253.3:c.4164C>G MANE Select	NP_957705.1:p.Gly1388=
NM_001193640.2:c.3828C>G	NP_001180569.1:p.Gly1276=
NM_001257965.2:c.4092C>G	NP_001244894.1:p.Gly1364=
NR_047563.2:n.4117C>G
NR_047564.2:n.4567C>G
NM_001257966.2:c.2556C>G	NP_001244895.1:p.Gly852=