Canonical Allele Identifier: CA422677513

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446859G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477729G>T , CM000663.2:g.197477729G>T	GRCh38
NC_000001.10:g.197446859G>T , CM000663.1:g.197446859G>T	GRCh37
NC_000001.9:g.195713482G>T	NCBI36
NG_008483.1:g.214452G>T
NG_008483.2:g.281268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4071G>T MANE Select	ENSP00000356370.3:p.Leu1357=
ENST00000367399.6:c.3735G>T	ENSP00000356369.2:p.Leu1245=
ENST00000367400.7:c.4071G>T	ENSP00000356370.3:p.Leu1357=
ENST00000448952.1:c.305G>T	ENSP00000395407.1:n.305G>T
ENST00000484075.5:c.*182G>T	ENSP00000433932.1:n.*182G>T
ENST00000535699.5:c.3999G>T	ENSP00000438786.1:p.Leu1333=
ENST00000538660.5:c.2463G>T	ENSP00000438091.1:p.Leu821=
NM_001193640.1:c.3735G>T	NP_001180569.1:p.Leu1245=
NM_001257965.1:c.3999G>T	NP_001244894.1:p.Leu1333=
NM_001257966.1:c.2463G>T	NP_001244895.1:p.Leu821=
NM_201253.2:c.4071G>T	NP_957705.1:p.Leu1357=
NR_047563.1:n.4072G>T
NR_047564.1:n.4522G>T
XM_011509366.1:c.*176G>T	XP_011507668.1:n.*176G>T
XM_011509367.1:c.*50G>T	XP_011507669.1:n.*50G>T
XM_011509368.1:c.3489G>T	XP_011507670.1:p.Leu1163=
XM_011509369.1:c.2514G>T	XP_011507671.1:p.Leu838=
XM_011509369.2:c.2514G>T	XP_011507671.1:p.Leu838=
XM_017000851.1:c.3228G>T	XP_016856340.1:p.Leu1076=
XM_017000852.1:c.4206G>T	XP_016856341.1:p.Leu1402=
NM_201253.3:c.4071G>T MANE Select	NP_957705.1:p.Leu1357=
NM_001193640.2:c.3735G>T	NP_001180569.1:p.Leu1245=
NM_001257965.2:c.3999G>T	NP_001244894.1:p.Leu1333=
NR_047563.2:n.4024G>T
NR_047564.2:n.4474G>T
NM_001257966.2:c.2463G>T	NP_001244895.1:p.Leu821=