Canonical Allele Identifier: CA344045747

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404112C>G (hg19) ; chr1:g.197434982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434982C>G , CM000663.2:g.197434982C>G	GRCh38
NC_000001.10:g.197404112C>G , CM000663.1:g.197404112C>G	GRCh37
NC_000001.9:g.195670735C>G	NCBI36
NG_008483.1:g.171705C>G
NG_008483.2:g.238521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3119C>G MANE Select	ENSP00000356370.3:p.Ser1040Cys
ENST00000638467.1:c.3119C>G	ENSP00000491102.1:p.Ser1040Cys
ENST00000681519.1:c.2000C>G	ENSP00000505267.1:p.Ser667Cys
ENST00000367397.1:c.1262C>G	ENSP00000356367.1:p.Ser421Cys
ENST00000367399.6:c.2783C>G	ENSP00000356369.2:p.Ser928Cys
ENST00000367400.7:c.3119C>G	ENSP00000356370.3:p.Ser1040Cys
ENST00000484075.5:c.3119C>G	ENSP00000433932.1:p.Ser1040Cys
ENST00000535699.5:c.3047C>G	ENSP00000438786.1:p.Ser1016Cys
ENST00000538660.5:c.2129-618C>G	ENSP00000438091.1:n.2129-618C>G
NM_001193640.1:c.2783C>G	NP_001180569.1:p.Ser928Cys
NM_001257965.1:c.3047C>G	NP_001244894.1:p.Ser1016Cys
NM_001257966.1:c.2129-618C>G	NP_001244895.1:n.2129-618C>G
NM_201253.2:c.3119C>G	NP_957705.1:p.Ser1040Cys
NR_047563.1:n.3120C>G
NR_047564.1:n.3328C>G
XM_011509365.1:c.3119C>G	XP_011507667.1:p.Ser1040Cys
XM_011509366.1:c.3119C>G	XP_011507668.1:p.Ser1040Cys
XM_011509367.1:c.3119C>G	XP_011507669.1:p.Ser1040Cys
XM_011509368.1:c.2537C>G	XP_011507670.1:p.Ser846Cys
XM_011509369.1:c.1562C>G	XP_011507671.1:p.Ser521Cys
XM_011509365.2:c.3119C>G	XP_011507667.1:p.Ser1040Cys
XM_011509369.2:c.1562C>G	XP_011507671.1:p.Ser521Cys
XM_017000851.1:c.2276C>G	XP_016856340.1:p.Ser759Cys
XM_017000852.1:c.3254C>G	XP_016856341.1:p.Ser1085Cys
NM_201253.3:c.3119C>G MANE Select	NP_957705.1:p.Ser1040Cys
NM_001193640.2:c.2783C>G	NP_001180569.1:p.Ser928Cys
NM_001257965.2:c.3047C>G	NP_001244894.1:p.Ser1016Cys
NR_047563.2:n.3072C>G
NR_047564.2:n.3280C>G
NM_001257966.2:c.2129-618C>G	NP_001244895.1:n.2129-618C>G