Canonical Allele Identifier: CA344035798

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446934C>G (hg19) ; chr1:g.197477804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477804C>G , CM000663.2:g.197477804C>G	GRCh38
NC_000001.10:g.197446934C>G , CM000663.1:g.197446934C>G	GRCh37
NC_000001.9:g.195713557C>G	NCBI36
NG_008483.1:g.214527C>G
NG_008483.2:g.281343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4146C>G MANE Select	ENSP00000356370.3:p.Ser1382Arg
ENST00000367399.6:c.3810C>G	ENSP00000356369.2:p.Ser1270Arg
ENST00000367400.7:c.4146C>G	ENSP00000356370.3:p.Ser1382Arg
ENST00000448952.1:c.380C>G	ENSP00000395407.1:n.380C>G
ENST00000484075.5:c.*257C>G	ENSP00000433932.1:n.*257C>G
ENST00000535699.5:c.4074C>G	ENSP00000438786.1:p.Ser1358Arg
ENST00000538660.5:c.2538C>G	ENSP00000438091.1:p.Ser846Arg
NM_001193640.1:c.3810C>G	NP_001180569.1:p.Ser1270Arg
NM_001257965.1:c.4074C>G	NP_001244894.1:p.Ser1358Arg
NM_001257966.1:c.2538C>G	NP_001244895.1:p.Ser846Arg
NM_201253.2:c.4146C>G	NP_957705.1:p.Ser1382Arg
NR_047563.1:n.4147C>G
NR_047564.1:n.4597C>G
XM_011509366.1:c.*251C>G	XP_011507668.1:n.*251C>G
XM_011509367.1:c.*125C>G	XP_011507669.1:n.*125C>G
XM_011509368.1:c.3564C>G	XP_011507670.1:p.Ser1188Arg
XM_011509369.1:c.2589C>G	XP_011507671.1:p.Ser863Arg
XM_011509369.2:c.2589C>G	XP_011507671.1:p.Ser863Arg
XM_017000851.1:c.3303C>G	XP_016856340.1:p.Ser1101Arg
XM_017000852.1:c.4281C>G	XP_016856341.1:p.Ser1427Arg
NM_201253.3:c.4146C>G MANE Select	NP_957705.1:p.Ser1382Arg
NM_001193640.2:c.3810C>G	NP_001180569.1:p.Ser1270Arg
NM_001257965.2:c.4074C>G	NP_001244894.1:p.Ser1358Arg
NR_047563.2:n.4099C>G
NR_047564.2:n.4549C>G
NM_001257966.2:c.2538C>G	NP_001244895.1:p.Ser846Arg