Canonical Allele Identifier: CA1218087209

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477665T= , CM000663.2:g.197477665T=	GRCh38
NC_000001.10:g.197446795T= , CM000663.1:g.197446795T=	GRCh37
NC_000001.9:g.195713418T=	NCBI36
NG_008483.1:g.214388T=
NG_008483.2:g.281204T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4007T= MANE Select	ENSP00000356370.3:p.Leu1336=
ENST00000367399.6:c.3671T=	ENSP00000356369.2:p.Leu1224=
ENST00000367400.7:c.4007T=	ENSP00000356370.3:p.Leu1336=
ENST00000448952.1:c.241T=	ENSP00000395407.1:n.241T=
ENST00000484075.5:c.*118T=	ENSP00000433932.1:n.*118T=
ENST00000535699.5:c.3935T=	ENSP00000438786.1:p.Leu1312=
ENST00000538660.5:c.2399T=	ENSP00000438091.1:p.Leu800=
NM_001193640.1:c.3671T=	NP_001180569.1:p.Leu1224=
NM_001257965.1:c.3935T=	NP_001244894.1:p.Leu1312=
NM_001257966.1:c.2399T=	NP_001244895.1:p.Leu800=
NM_201253.2:c.4007T=	NP_957705.1:p.Leu1336=
NR_047563.1:n.4008T=
NR_047564.1:n.4458T=
XM_011509366.1:c.*112T=	XP_011507668.1:n.*112T=
XM_011509367.1:c.3880T=	XP_011507669.1:p.Trp1294=
XM_011509368.1:c.3425T=	XP_011507670.1:p.Leu1142=
XM_011509369.1:c.2450T=	XP_011507671.1:p.Leu817=
XM_011509369.2:c.2450T=	XP_011507671.1:p.Leu817=
XM_017000851.1:c.3164T=	XP_016856340.1:p.Leu1055=
XM_017000852.1:c.4142T=	XP_016856341.1:p.Leu1381=
NM_201253.3:c.4007T= MANE Select	NP_957705.1:p.Leu1336=
NM_001193640.2:c.3671T=	NP_001180569.1:p.Leu1224=
NM_001257965.2:c.3935T=	NP_001244894.1:p.Leu1312=
NR_047563.2:n.3960T=
NR_047564.2:n.4410T=
NM_001257966.2:c.2399T=	NP_001244895.1:p.Leu800=