Canonical Allele Identifier: CA422808757

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404065A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434935A>C , CM000663.2:g.197434935A>C	GRCh38
NC_000001.10:g.197404065A>C , CM000663.1:g.197404065A>C	GRCh37
NC_000001.9:g.195670688A>C	NCBI36
NG_008483.1:g.171658A>C
NG_008483.2:g.238474A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3072A>C MANE Select	ENSP00000356370.3:p.Thr1024=
ENST00000638467.1:c.3072A>C	ENSP00000491102.1:p.Thr1024=
ENST00000681519.1:c.1953A>C	ENSP00000505267.1:p.Thr651=
ENST00000367397.1:c.1215A>C	ENSP00000356367.1:p.Thr405=
ENST00000367399.6:c.2736A>C	ENSP00000356369.2:p.Thr912=
ENST00000367400.7:c.3072A>C	ENSP00000356370.3:p.Thr1024=
ENST00000484075.5:c.3072A>C	ENSP00000433932.1:p.Thr1024=
ENST00000535699.5:c.3000A>C	ENSP00000438786.1:p.Thr1000=
ENST00000538660.5:c.2129-665A>C	ENSP00000438091.1:n.2129-665A>C
NM_001193640.1:c.2736A>C	NP_001180569.1:p.Thr912=
NM_001257965.1:c.3000A>C	NP_001244894.1:p.Thr1000=
NM_001257966.1:c.2129-665A>C	NP_001244895.1:n.2129-665A>C
NM_201253.2:c.3072A>C	NP_957705.1:p.Thr1024=
NR_047563.1:n.3073A>C
NR_047564.1:n.3281A>C
XM_011509365.1:c.3072A>C	XP_011507667.1:p.Thr1024=
XM_011509366.1:c.3072A>C	XP_011507668.1:p.Thr1024=
XM_011509367.1:c.3072A>C	XP_011507669.1:p.Thr1024=
XM_011509368.1:c.2490A>C	XP_011507670.1:p.Thr830=
XM_011509369.1:c.1515A>C	XP_011507671.1:p.Thr505=
XM_011509365.2:c.3072A>C	XP_011507667.1:p.Thr1024=
XM_011509369.2:c.1515A>C	XP_011507671.1:p.Thr505=
XM_017000851.1:c.2229A>C	XP_016856340.1:p.Thr743=
XM_017000852.1:c.3207A>C	XP_016856341.1:p.Thr1069=
NM_201253.3:c.3072A>C MANE Select	NP_957705.1:p.Thr1024=
NM_001193640.2:c.2736A>C	NP_001180569.1:p.Thr912=
NM_001257965.2:c.3000A>C	NP_001244894.1:p.Thr1000=
NR_047563.2:n.3025A>C
NR_047564.2:n.3233A>C
NM_001257966.2:c.2129-665A>C	NP_001244895.1:n.2129-665A>C