Canonical Allele Identifier: CA422677606

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446974T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477844T>C , CM000663.2:g.197477844T>C	GRCh38
NC_000001.10:g.197446974T>C , CM000663.1:g.197446974T>C	GRCh37
NC_000001.9:g.195713597T>C	NCBI36
NG_008483.1:g.214567T>C
NG_008483.2:g.281383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4186T>C MANE Select	ENSP00000356370.3:p.Leu1396=
ENST00000367399.6:c.3850T>C	ENSP00000356369.2:p.Leu1284=
ENST00000367400.7:c.4186T>C	ENSP00000356370.3:p.Leu1396=
ENST00000448952.1:c.420T>C	ENSP00000395407.1:n.420T>C
ENST00000484075.5:c.*297T>C	ENSP00000433932.1:n.*297T>C
ENST00000535699.5:c.4114T>C	ENSP00000438786.1:p.Leu1372=
ENST00000538660.5:c.2578T>C	ENSP00000438091.1:p.Leu860=
NM_001193640.1:c.3850T>C	NP_001180569.1:p.Leu1284=
NM_001257965.1:c.4114T>C	NP_001244894.1:p.Leu1372=
NM_001257966.1:c.2578T>C	NP_001244895.1:p.Leu860=
NM_201253.2:c.4186T>C	NP_957705.1:p.Leu1396=
NR_047563.1:n.4187T>C
NR_047564.1:n.4637T>C
XM_011509366.1:c.*291T>C	XP_011507668.1:n.*291T>C
XM_011509367.1:c.*165T>C	XP_011507669.1:n.*165T>C
XM_011509368.1:c.3604T>C	XP_011507670.1:p.Leu1202=
XM_011509369.1:c.2629T>C	XP_011507671.1:p.Leu877=
XM_011509369.2:c.2629T>C	XP_011507671.1:p.Leu877=
XM_017000851.1:c.3343T>C	XP_016856340.1:p.Leu1115=
XM_017000852.1:c.4321T>C	XP_016856341.1:p.Leu1441=
NM_201253.3:c.4186T>C MANE Select	NP_957705.1:p.Leu1396=
NM_001193640.2:c.3850T>C	NP_001180569.1:p.Leu1284=
NM_001257965.2:c.4114T>C	NP_001244894.1:p.Leu1372=
NR_047563.2:n.4139T>C
NR_047564.2:n.4589T>C
NM_001257966.2:c.2578T>C	NP_001244895.1:p.Leu860=