Canonical Allele Identifier: CA1140762963

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435162T= , CM000663.2:g.197435162T=	GRCh38
NC_000001.10:g.197404292T= , CM000663.1:g.197404292T=	GRCh37
NC_000001.9:g.195670915T=	NCBI36
NG_008483.1:g.171885T=
NG_008483.2:g.238701T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.3299T= MANE Select	ENSP00000356370.3:p.Ile1100=
ENST00000638467.1:c.3299T=	ENSP00000491102.1:p.Ile1100=
ENST00000681519.1:c.2180T=	ENSP00000505267.1:p.Ile727=
ENST00000367397.1:c.1442T=	ENSP00000356367.1:p.Ile481=
ENST00000367399.6:c.2963T=	ENSP00000356369.2:p.Ile988=
ENST00000367400.7:c.3299T=	ENSP00000356370.3:p.Ile1100=
ENST00000484075.5:c.3299T=	ENSP00000433932.1:p.Ile1100=
ENST00000535699.5:c.3227T=	ENSP00000438786.1:p.Ile1076=
ENST00000538660.5:c.2129-438T=	ENSP00000438091.1:n.2129-438T=
NM_001193640.1:c.2963T=	NP_001180569.1:p.Ile988=
NM_001257965.1:c.3227T=	NP_001244894.1:p.Ile1076=
NM_001257966.1:c.2129-438T=	NP_001244895.1:n.2129-438T=
NM_201253.2:c.3299T=	NP_957705.1:p.Ile1100=
NR_047563.1:n.3300T=
NR_047564.1:n.3508T=
XM_011509365.1:c.3299T=	XP_011507667.1:p.Ile1100=
XM_011509366.1:c.3299T=	XP_011507668.1:p.Ile1100=
XM_011509367.1:c.3299T=	XP_011507669.1:p.Ile1100=
XM_011509368.1:c.2717T=	XP_011507670.1:p.Ile906=
XM_011509369.1:c.1742T=	XP_011507671.1:p.Ile581=
XM_011509365.2:c.3299T=	XP_011507667.1:p.Ile1100=
XM_011509369.2:c.1742T=	XP_011507671.1:p.Ile581=
XM_017000851.1:c.2456T=	XP_016856340.1:p.Ile819=
XM_017000852.1:c.3434T=	XP_016856341.1:p.Ile1145=
NM_201253.3:c.3299T= MANE Select	NP_957705.1:p.Ile1100=
NM_001193640.2:c.2963T=	NP_001180569.1:p.Ile988=
NM_001257965.2:c.3227T=	NP_001244894.1:p.Ile1076=
NR_047563.2:n.3252T=
NR_047564.2:n.3460T=
NM_001257966.2:c.2129-438T=	NP_001244895.1:n.2129-438T=