Canonical Allele Identifier: CA344041112

Gene: CRB1

Linked Data

• gnomAD v4: 1-197429554-T-G
• MyVariant Identifiers: chr1:g.197398684T>G (hg19) ; chr1:g.197429554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429554T>G , CM000663.2:g.197429554T>G	GRCh38
NC_000001.10:g.197398684T>G , CM000663.1:g.197398684T>G	GRCh37
NC_000001.9:g.195665307T>G	NCBI36
NG_008483.1:g.166277T>G
NG_008483.2:g.233093T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2782T>G MANE Select	ENSP00000356370.3:p.Cys928Gly
ENST00000638467.1:c.2782T>G	ENSP00000491102.1:p.Cys928Gly
ENST00000681519.1:c.1663T>G	ENSP00000505267.1:p.Cys555Gly
ENST00000367397.1:c.925T>G	ENSP00000356367.1:p.Cys309Gly
ENST00000367399.6:c.2446T>G	ENSP00000356369.2:p.Cys816Gly
ENST00000367400.7:c.2782T>G	ENSP00000356370.3:p.Cys928Gly
ENST00000484075.5:c.2782T>G	ENSP00000433932.1:p.Cys928Gly
ENST00000535699.5:c.2710T>G	ENSP00000438786.1:p.Cys904Gly
ENST00000538660.5:c.2129-6046T>G	ENSP00000438091.1:n.2129-6046T>G
NM_001193640.1:c.2446T>G	NP_001180569.1:p.Cys816Gly
NM_001257965.1:c.2710T>G	NP_001244894.1:p.Cys904Gly
NM_001257966.1:c.2129-6046T>G	NP_001244895.1:n.2129-6046T>G
NM_201253.2:c.2782T>G	NP_957705.1:p.Cys928Gly
NR_047563.1:n.2783T>G
NR_047564.1:n.2991T>G
XM_011509365.1:c.2782T>G	XP_011507667.1:p.Cys928Gly
XM_011509366.1:c.2782T>G	XP_011507668.1:p.Cys928Gly
XM_011509367.1:c.2782T>G	XP_011507669.1:p.Cys928Gly
XM_011509368.1:c.2200T>G	XP_011507670.1:p.Cys734Gly
XM_011509369.1:c.1225T>G	XP_011507671.1:p.Cys409Gly
XM_011509365.2:c.2782T>G	XP_011507667.1:p.Cys928Gly
XM_011509369.2:c.1225T>G	XP_011507671.1:p.Cys409Gly
XM_017000851.1:c.1939T>G	XP_016856340.1:p.Cys647Gly
XM_017000852.1:c.2917T>G	XP_016856341.1:p.Cys973Gly
NM_201253.3:c.2782T>G MANE Select	NP_957705.1:p.Cys928Gly
NM_001193640.2:c.2446T>G	NP_001180569.1:p.Cys816Gly
NM_001257965.2:c.2710T>G	NP_001244894.1:p.Cys904Gly
NR_047563.2:n.2735T>G
NR_047564.2:n.2943T>G
NM_001257966.2:c.2129-6046T>G	NP_001244895.1:n.2129-6046T>G