Canonical Allele Identifier: CA422672284

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197398638C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429508C>G , CM000663.2:g.197429508C>G	GRCh38
NC_000001.10:g.197398638C>G , CM000663.1:g.197398638C>G	GRCh37
NC_000001.9:g.195665261C>G	NCBI36
NG_008483.1:g.166231C>G
NG_008483.2:g.233047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2736C>G MANE Select	ENSP00000356370.3:p.Ser912=
ENST00000638467.1:c.2736C>G	ENSP00000491102.1:p.Ser912=
ENST00000681519.1:c.1617C>G	ENSP00000505267.1:p.Ser539=
ENST00000367397.1:c.879C>G	ENSP00000356367.1:p.Ser293=
ENST00000367399.6:c.2400C>G	ENSP00000356369.2:p.Ser800=
ENST00000367400.7:c.2736C>G	ENSP00000356370.3:p.Ser912=
ENST00000484075.5:c.2736C>G	ENSP00000433932.1:p.Ser912=
ENST00000535699.5:c.2664C>G	ENSP00000438786.1:p.Ser888=
ENST00000538660.5:c.2129-6092C>G	ENSP00000438091.1:n.2129-6092C>G
NM_001193640.1:c.2400C>G	NP_001180569.1:p.Ser800=
NM_001257965.1:c.2664C>G	NP_001244894.1:p.Ser888=
NM_001257966.1:c.2129-6092C>G	NP_001244895.1:n.2129-6092C>G
NM_201253.2:c.2736C>G	NP_957705.1:p.Ser912=
NR_047563.1:n.2737C>G
NR_047564.1:n.2945C>G
XM_011509365.1:c.2736C>G	XP_011507667.1:p.Ser912=
XM_011509366.1:c.2736C>G	XP_011507668.1:p.Ser912=
XM_011509367.1:c.2736C>G	XP_011507669.1:p.Ser912=
XM_011509368.1:c.2154C>G	XP_011507670.1:p.Ser718=
XM_011509369.1:c.1179C>G	XP_011507671.1:p.Ser393=
XM_011509365.2:c.2736C>G	XP_011507667.1:p.Ser912=
XM_011509369.2:c.1179C>G	XP_011507671.1:p.Ser393=
XM_017000851.1:c.1893C>G	XP_016856340.1:p.Ser631=
XM_017000852.1:c.2871C>G	XP_016856341.1:p.Ser957=
NM_201253.3:c.2736C>G MANE Select	NP_957705.1:p.Ser912=
NM_001193640.2:c.2400C>G	NP_001180569.1:p.Ser800=
NM_001257965.2:c.2664C>G	NP_001244894.1:p.Ser888=
NR_047563.2:n.2689C>G
NR_047564.2:n.2897C>G
NM_001257966.2:c.2129-6092C>G	NP_001244895.1:n.2129-6092C>G