Canonical Allele Identifier: CA422808951

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397041G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427911G>T , CM000663.2:g.197427911G>T	GRCh38
NC_000001.10:g.197397041G>T , CM000663.1:g.197397041G>T	GRCh37
NC_000001.9:g.195663664G>T	NCBI36
NG_008483.1:g.164634G>T
NG_008483.2:g.231450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2586G>T MANE Select	ENSP00000356370.3:p.Leu862=
ENST00000638467.1:c.2586G>T	ENSP00000491102.1:p.Leu862=
ENST00000681519.1:c.1467G>T	ENSP00000505267.1:p.Leu489=
ENST00000367397.1:c.729G>T	ENSP00000356367.1:p.Leu243=
ENST00000367399.6:c.2250G>T	ENSP00000356369.2:p.Leu750=
ENST00000367400.7:c.2586G>T	ENSP00000356370.3:p.Leu862=
ENST00000484075.5:c.2586G>T	ENSP00000433932.1:p.Leu862=
ENST00000535699.5:c.2379G>T	ENSP00000438786.1:p.Leu793=
ENST00000538660.5:c.2128+5955G>T	ENSP00000438091.1:n.2128+5955G>T
NM_001193640.1:c.2250G>T	NP_001180569.1:p.Leu750=
NM_001257965.1:c.2379G>T	NP_001244894.1:p.Leu793=
NM_001257966.1:c.2128+5955G>T	NP_001244895.1:n.2128+5955G>T
NM_201253.2:c.2586G>T	NP_957705.1:p.Leu862=
NR_047563.1:n.2587G>T
NR_047564.1:n.2795G>T
XM_011509365.1:c.2586G>T	XP_011507667.1:p.Leu862=
XM_011509366.1:c.2586G>T	XP_011507668.1:p.Leu862=
XM_011509367.1:c.2586G>T	XP_011507669.1:p.Leu862=
XM_011509368.1:c.2004G>T	XP_011507670.1:p.Leu668=
XM_011509369.1:c.1029G>T	XP_011507671.1:p.Leu343=
XM_011509365.2:c.2586G>T	XP_011507667.1:p.Leu862=
XM_011509369.2:c.1029G>T	XP_011507671.1:p.Leu343=
XM_017000851.1:c.1743G>T	XP_016856340.1:p.Leu581=
XM_017000852.1:c.2586G>T	XP_016856341.1:p.Leu862=
NM_201253.3:c.2586G>T MANE Select	NP_957705.1:p.Leu862=
NM_001193640.2:c.2250G>T	NP_001180569.1:p.Leu750=
NM_001257965.2:c.2379G>T	NP_001244894.1:p.Leu793=
NR_047563.2:n.2539G>T
NR_047564.2:n.2747G>T
NM_001257966.2:c.2128+5955G>T	NP_001244895.1:n.2128+5955G>T