Canonical Allele Identifier: CA1218068806

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435131A= , CM000663.2:g.197435131A=	GRCh38
NC_000001.10:g.197404261A= , CM000663.1:g.197404261A=	GRCh37
NC_000001.9:g.195670884A=	NCBI36
NG_008483.1:g.171854A=
NG_008483.2:g.238670A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3268A= MANE Select	ENSP00000356370.3:p.Ile1090=
ENST00000638467.1:c.3268A=	ENSP00000491102.1:p.Ile1090=
ENST00000681519.1:c.2149A=	ENSP00000505267.1:p.Ile717=
ENST00000367397.1:c.1411A=	ENSP00000356367.1:p.Ile471=
ENST00000367399.6:c.2932A=	ENSP00000356369.2:p.Ile978=
ENST00000367400.7:c.3268A=	ENSP00000356370.3:p.Ile1090=
ENST00000484075.5:c.3268A=	ENSP00000433932.1:p.Ile1090=
ENST00000535699.5:c.3196A=	ENSP00000438786.1:p.Ile1066=
ENST00000538660.5:c.2129-469A=	ENSP00000438091.1:n.2129-469A=
NM_001193640.1:c.2932A=	NP_001180569.1:p.Ile978=
NM_001257965.1:c.3196A=	NP_001244894.1:p.Ile1066=
NM_001257966.1:c.2129-469A=	NP_001244895.1:n.2129-469A=
NM_201253.2:c.3268A=	NP_957705.1:p.Ile1090=
NR_047563.1:n.3269A=
NR_047564.1:n.3477A=
XM_011509365.1:c.3268A=	XP_011507667.1:p.Ile1090=
XM_011509366.1:c.3268A=	XP_011507668.1:p.Ile1090=
XM_011509367.1:c.3268A=	XP_011507669.1:p.Ile1090=
XM_011509368.1:c.2686A=	XP_011507670.1:p.Ile896=
XM_011509369.1:c.1711A=	XP_011507671.1:p.Ile571=
XM_011509365.2:c.3268A=	XP_011507667.1:p.Ile1090=
XM_011509369.2:c.1711A=	XP_011507671.1:p.Ile571=
XM_017000851.1:c.2425A=	XP_016856340.1:p.Ile809=
XM_017000852.1:c.3403A=	XP_016856341.1:p.Ile1135=
NM_201253.3:c.3268A= MANE Select	NP_957705.1:p.Ile1090=
NM_001193640.2:c.2932A=	NP_001180569.1:p.Ile978=
NM_001257965.2:c.3196A=	NP_001244894.1:p.Ile1066=
NR_047563.2:n.3221A=
NR_047564.2:n.3429A=
NM_001257966.2:c.2129-469A=	NP_001244895.1:n.2129-469A=