Canonical Allele Identifier: CA422808225

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390455C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421325C>G , CM000663.2:g.197421325C>G	GRCh38
NC_000001.10:g.197390455C>G , CM000663.1:g.197390455C>G	GRCh37
NC_000001.9:g.195657078C>G	NCBI36
NG_008483.1:g.158048C>G
NG_008483.2:g.224864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1497C>G MANE Select	ENSP00000356370.3:p.Gly499=
ENST00000638467.1:c.1497C>G	ENSP00000491102.1:p.Gly499=
ENST00000681519.1:c.378C>G	ENSP00000505267.1:p.Gly126=
ENST00000367397.1:c.-361C>G	ENSP00000356367.1:n.-361C>G
ENST00000367399.6:c.1161C>G	ENSP00000356369.2:p.Gly387=
ENST00000367400.7:c.1497C>G	ENSP00000356370.3:p.Gly499=
ENST00000476483.1:n.457C>G
ENST00000484075.5:c.1497C>G	ENSP00000433932.1:p.Gly499=
ENST00000535699.5:c.1290C>G	ENSP00000438786.1:p.Gly430=
ENST00000538660.5:c.1497C>G	ENSP00000438091.1:p.Gly499=
NM_001193640.1:c.1161C>G	NP_001180569.1:p.Gly387=
NM_001257965.1:c.1290C>G	NP_001244894.1:p.Gly430=
NM_001257966.1:c.1497C>G	NP_001244895.1:p.Gly499=
NM_201253.2:c.1497C>G	NP_957705.1:p.Gly499=
NR_047563.1:n.1706C>G
NR_047564.1:n.1706C>G
XM_011509365.1:c.1497C>G	XP_011507667.1:p.Gly499=
XM_011509366.1:c.1497C>G	XP_011507668.1:p.Gly499=
XM_011509367.1:c.1497C>G	XP_011507669.1:p.Gly499=
XM_011509368.1:c.915C>G	XP_011507670.1:p.Gly305=
XM_011509369.1:c.-61C>G	XP_011507671.1:n.-61C>G
XM_011509365.2:c.1497C>G	XP_011507667.1:p.Gly499=
XM_011509369.2:c.-61C>G	XP_011507671.1:n.-61C>G
XM_017000851.1:c.654C>G	XP_016856340.1:p.Gly218=
XM_017000852.1:c.1497C>G	XP_016856341.1:p.Gly499=
NM_201253.3:c.1497C>G MANE Select	NP_957705.1:p.Gly499=
NM_001193640.2:c.1161C>G	NP_001180569.1:p.Gly387=
NM_001257965.2:c.1290C>G	NP_001244894.1:p.Gly430=
NR_047563.2:n.1658C>G
NR_047564.2:n.1658C>G
NM_001257966.2:c.1497C>G	NP_001244895.1:p.Gly499=