Canonical Allele Identifier: CA422809232

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396807A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427677A>C , CM000663.2:g.197427677A>C	GRCh38
NC_000001.10:g.197396807A>C , CM000663.1:g.197396807A>C	GRCh37
NC_000001.9:g.195663430A>C	NCBI36
NG_008483.1:g.164400A>C
NG_008483.2:g.231216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2352A>C MANE Select	ENSP00000356370.3:p.Val784=
ENST00000638467.1:c.2352A>C	ENSP00000491102.1:p.Val784=
ENST00000681519.1:c.1233A>C	ENSP00000505267.1:p.Val411=
ENST00000367397.1:c.495A>C	ENSP00000356367.1:p.Val165=
ENST00000367399.6:c.2016A>C	ENSP00000356369.2:p.Val672=
ENST00000367400.7:c.2352A>C	ENSP00000356370.3:p.Val784=
ENST00000480086.2:n.253A>C
ENST00000484075.5:c.2352A>C	ENSP00000433932.1:p.Val784=
ENST00000535699.5:c.2145A>C	ENSP00000438786.1:p.Val715=
ENST00000538660.5:c.2128+5721A>C	ENSP00000438091.1:n.2128+5721A>C
NM_001193640.1:c.2016A>C	NP_001180569.1:p.Val672=
NM_001257965.1:c.2145A>C	NP_001244894.1:p.Val715=
NM_001257966.1:c.2128+5721A>C	NP_001244895.1:n.2128+5721A>C
NM_201253.2:c.2352A>C	NP_957705.1:p.Val784=
NR_047563.1:n.2353A>C
NR_047564.1:n.2561A>C
XM_011509365.1:c.2352A>C	XP_011507667.1:p.Val784=
XM_011509366.1:c.2352A>C	XP_011507668.1:p.Val784=
XM_011509367.1:c.2352A>C	XP_011507669.1:p.Val784=
XM_011509368.1:c.1770A>C	XP_011507670.1:p.Val590=
XM_011509369.1:c.795A>C	XP_011507671.1:p.Val265=
XM_011509365.2:c.2352A>C	XP_011507667.1:p.Val784=
XM_011509369.2:c.795A>C	XP_011507671.1:p.Val265=
XM_017000851.1:c.1509A>C	XP_016856340.1:p.Val503=
XM_017000852.1:c.2352A>C	XP_016856341.1:p.Val784=
NM_201253.3:c.2352A>C MANE Select	NP_957705.1:p.Val784=
NM_001193640.2:c.2016A>C	NP_001180569.1:p.Val672=
NM_001257965.2:c.2145A>C	NP_001244894.1:p.Val715=
NR_047563.2:n.2305A>C
NR_047564.2:n.2513A>C
NM_001257966.2:c.2128+5721A>C	NP_001244895.1:n.2128+5721A>C