Canonical Allele Identifier: CA422677626

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447003G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477873G>C , CM000663.2:g.197477873G>C	GRCh38
NC_000001.10:g.197447003G>C , CM000663.1:g.197447003G>C	GRCh37
NC_000001.9:g.195713626G>C	NCBI36
NG_008483.1:g.214596G>C
NG_008483.2:g.281412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4215G>C MANE Select	ENSP00000356370.3:p.Leu1405=
ENST00000367399.6:c.3879G>C	ENSP00000356369.2:p.Leu1293=
ENST00000367400.7:c.4215G>C	ENSP00000356370.3:p.Leu1405=
ENST00000448952.1:c.449G>C	ENSP00000395407.1:n.449G>C
ENST00000484075.5:c.*326G>C	ENSP00000433932.1:n.*326G>C
ENST00000535699.5:c.4143G>C	ENSP00000438786.1:p.Leu1381=
ENST00000538660.5:c.2607G>C	ENSP00000438091.1:p.Leu869=
NM_001193640.1:c.3879G>C	NP_001180569.1:p.Leu1293=
NM_001257965.1:c.4143G>C	NP_001244894.1:p.Leu1381=
NM_001257966.1:c.2607G>C	NP_001244895.1:p.Leu869=
NM_201253.2:c.4215G>C	NP_957705.1:p.Leu1405=
NR_047563.1:n.4216G>C
NR_047564.1:n.4666G>C
XM_011509366.1:c.*320G>C	XP_011507668.1:n.*320G>C
XM_011509367.1:c.*194G>C	XP_011507669.1:n.*194G>C
XM_011509368.1:c.3633G>C	XP_011507670.1:p.Leu1211=
XM_011509369.1:c.2658G>C	XP_011507671.1:p.Leu886=
XM_011509369.2:c.2658G>C	XP_011507671.1:p.Leu886=
XM_017000851.1:c.3372G>C	XP_016856340.1:p.Leu1124=
XM_017000852.1:c.4350G>C	XP_016856341.1:p.Leu1450=
NM_201253.3:c.4215G>C MANE Select	NP_957705.1:p.Leu1405=
NM_001193640.2:c.3879G>C	NP_001180569.1:p.Leu1293=
NM_001257965.2:c.4143G>C	NP_001244894.1:p.Leu1381=
NR_047563.2:n.4168G>C
NR_047564.2:n.4618G>C
NM_001257966.2:c.2607G>C	NP_001244895.1:p.Leu869=