Canonical Allele Identifier: CA1218068787

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435084T= , CM000663.2:g.197435084T=	GRCh38
NC_000001.10:g.197404214T= , CM000663.1:g.197404214T=	GRCh37
NC_000001.9:g.195670837T=	NCBI36
NG_008483.1:g.171807T=
NG_008483.2:g.238623T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3221T= MANE Select	ENSP00000356370.3:p.Leu1074=
ENST00000638467.1:c.3221T=	ENSP00000491102.1:p.Leu1074=
ENST00000681519.1:c.2102T=	ENSP00000505267.1:p.Leu701=
ENST00000367397.1:c.1364T=	ENSP00000356367.1:p.Leu455=
ENST00000367399.6:c.2885T=	ENSP00000356369.2:p.Leu962=
ENST00000367400.7:c.3221T=	ENSP00000356370.3:p.Leu1074=
ENST00000484075.5:c.3221T=	ENSP00000433932.1:p.Leu1074=
ENST00000535699.5:c.3149T=	ENSP00000438786.1:p.Leu1050=
ENST00000538660.5:c.2129-516T=	ENSP00000438091.1:n.2129-516T=
NM_001193640.1:c.2885T=	NP_001180569.1:p.Leu962=
NM_001257965.1:c.3149T=	NP_001244894.1:p.Leu1050=
NM_001257966.1:c.2129-516T=	NP_001244895.1:n.2129-516T=
NM_201253.2:c.3221T=	NP_957705.1:p.Leu1074=
NR_047563.1:n.3222T=
NR_047564.1:n.3430T=
XM_011509365.1:c.3221T=	XP_011507667.1:p.Leu1074=
XM_011509366.1:c.3221T=	XP_011507668.1:p.Leu1074=
XM_011509367.1:c.3221T=	XP_011507669.1:p.Leu1074=
XM_011509368.1:c.2639T=	XP_011507670.1:p.Leu880=
XM_011509369.1:c.1664T=	XP_011507671.1:p.Leu555=
XM_011509365.2:c.3221T=	XP_011507667.1:p.Leu1074=
XM_011509369.2:c.1664T=	XP_011507671.1:p.Leu555=
XM_017000851.1:c.2378T=	XP_016856340.1:p.Leu793=
XM_017000852.1:c.3356T=	XP_016856341.1:p.Leu1119=
NM_201253.3:c.3221T= MANE Select	NP_957705.1:p.Leu1074=
NM_001193640.2:c.2885T=	NP_001180569.1:p.Leu962=
NM_001257965.2:c.3149T=	NP_001244894.1:p.Leu1050=
NR_047563.2:n.3174T=
NR_047564.2:n.3382T=
NM_001257966.2:c.2129-516T=	NP_001244895.1:n.2129-516T=