Canonical Allele Identifier: CA422808750

Gene: CRB1

Linked Data

• COSMIC: COSM4486532 ; COSM4486533
• MyVariant Identifiers: chr1:g.197404060C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434930C>T , CM000663.2:g.197434930C>T	GRCh38
NC_000001.10:g.197404060C>T , CM000663.1:g.197404060C>T	GRCh37
NC_000001.9:g.195670683C>T	NCBI36
NG_008483.1:g.171653C>T
NG_008483.2:g.238469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3067C>T MANE Select	ENSP00000356370.3:p.Leu1023=
ENST00000638467.1:c.3067C>T	ENSP00000491102.1:p.Leu1023=
ENST00000681519.1:c.1948C>T	ENSP00000505267.1:p.Leu650=
ENST00000367397.1:c.1210C>T	ENSP00000356367.1:p.Leu404=
ENST00000367399.6:c.2731C>T	ENSP00000356369.2:p.Leu911=
ENST00000367400.7:c.3067C>T	ENSP00000356370.3:p.Leu1023=
ENST00000484075.5:c.3067C>T	ENSP00000433932.1:p.Leu1023=
ENST00000535699.5:c.2995C>T	ENSP00000438786.1:p.Leu999=
ENST00000538660.5:c.2129-670C>T	ENSP00000438091.1:n.2129-670C>T
NM_001193640.1:c.2731C>T	NP_001180569.1:p.Leu911=
NM_001257965.1:c.2995C>T	NP_001244894.1:p.Leu999=
NM_001257966.1:c.2129-670C>T	NP_001244895.1:n.2129-670C>T
NM_201253.2:c.3067C>T	NP_957705.1:p.Leu1023=
NR_047563.1:n.3068C>T
NR_047564.1:n.3276C>T
XM_011509365.1:c.3067C>T	XP_011507667.1:p.Leu1023=
XM_011509366.1:c.3067C>T	XP_011507668.1:p.Leu1023=
XM_011509367.1:c.3067C>T	XP_011507669.1:p.Leu1023=
XM_011509368.1:c.2485C>T	XP_011507670.1:p.Leu829=
XM_011509369.1:c.1510C>T	XP_011507671.1:p.Leu504=
XM_011509365.2:c.3067C>T	XP_011507667.1:p.Leu1023=
XM_011509369.2:c.1510C>T	XP_011507671.1:p.Leu504=
XM_017000851.1:c.2224C>T	XP_016856340.1:p.Leu742=
XM_017000852.1:c.3202C>T	XP_016856341.1:p.Leu1068=
NM_201253.3:c.3067C>T MANE Select	NP_957705.1:p.Leu1023=
NM_001193640.2:c.2731C>T	NP_001180569.1:p.Leu911=
NM_001257965.2:c.2995C>T	NP_001244894.1:p.Leu999=
NR_047563.2:n.3020C>T
NR_047564.2:n.3228C>T
NM_001257966.2:c.2129-670C>T	NP_001244895.1:n.2129-670C>T