Canonical Allele Identifier: CA1218063249

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421730A= , CM000663.2:g.197421730A=	GRCh38
NC_000001.10:g.197390860A= , CM000663.1:g.197390860A=	GRCh37
NC_000001.9:g.195657483A=	NCBI36
NG_008483.1:g.158453A=
NG_008483.2:g.225269A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1902A= MANE Select	ENSP00000356370.3:p.Pro634=
ENST00000638467.1:c.1902A=	ENSP00000491102.1:p.Pro634=
ENST00000681519.1:c.783A=	ENSP00000505267.1:p.Pro261=
ENST00000367397.1:c.45A=	ENSP00000356367.1:p.Pro15=
ENST00000367399.6:c.1566A=	ENSP00000356369.2:p.Pro522=
ENST00000367400.7:c.1902A=	ENSP00000356370.3:p.Pro634=
ENST00000484075.5:c.1902A=	ENSP00000433932.1:p.Pro634=
ENST00000535699.5:c.1695A=	ENSP00000438786.1:p.Pro565=
ENST00000538660.5:c.1902A=	ENSP00000438091.1:p.Pro634=
NM_001193640.1:c.1566A=	NP_001180569.1:p.Pro522=
NM_001257965.1:c.1695A=	NP_001244894.1:p.Pro565=
NM_001257966.1:c.1902A=	NP_001244895.1:p.Pro634=
NM_201253.2:c.1902A=	NP_957705.1:p.Pro634=
NR_047563.1:n.1923-20A=
NR_047564.1:n.2111A=
XM_011509365.1:c.1902A=	XP_011507667.1:p.Pro634=
XM_011509366.1:c.1902A=	XP_011507668.1:p.Pro634=
XM_011509367.1:c.1902A=	XP_011507669.1:p.Pro634=
XM_011509368.1:c.1320A=	XP_011507670.1:p.Pro440=
XM_011509369.1:c.345A=	XP_011507671.1:p.Pro115=
XM_011509365.2:c.1902A=	XP_011507667.1:p.Pro634=
XM_011509369.2:c.345A=	XP_011507671.1:p.Pro115=
XM_017000851.1:c.1059A=	XP_016856340.1:p.Pro353=
XM_017000852.1:c.1902A=	XP_016856341.1:p.Pro634=
NM_201253.3:c.1902A= MANE Select	NP_957705.1:p.Pro634=
NM_001193640.2:c.1566A=	NP_001180569.1:p.Pro522=
NM_001257965.2:c.1695A=	NP_001244894.1:p.Pro565=
NR_047563.2:n.1875-20A=
NR_047564.2:n.2063A=
NM_001257966.2:c.1902A=	NP_001244895.1:p.Pro634=