Canonical Allele Identifier: CA344044744

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404022T>G (hg19) ; chr1:g.197434892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434892T>G , CM000663.2:g.197434892T>G	GRCh38
NC_000001.10:g.197404022T>G , CM000663.1:g.197404022T>G	GRCh37
NC_000001.9:g.195670645T>G	NCBI36
NG_008483.1:g.171615T>G
NG_008483.2:g.238431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3029T>G MANE Select	ENSP00000356370.3:p.Phe1010Cys
ENST00000638467.1:c.3029T>G	ENSP00000491102.1:p.Phe1010Cys
ENST00000681519.1:c.1910T>G	ENSP00000505267.1:p.Phe637Cys
ENST00000367397.1:c.1172T>G	ENSP00000356367.1:p.Phe391Cys
ENST00000367399.6:c.2693T>G	ENSP00000356369.2:p.Phe898Cys
ENST00000367400.7:c.3029T>G	ENSP00000356370.3:p.Phe1010Cys
ENST00000484075.5:c.3029T>G	ENSP00000433932.1:p.Phe1010Cys
ENST00000535699.5:c.2957T>G	ENSP00000438786.1:p.Phe986Cys
ENST00000538660.5:c.2129-708T>G	ENSP00000438091.1:n.2129-708T>G
NM_001193640.1:c.2693T>G	NP_001180569.1:p.Phe898Cys
NM_001257965.1:c.2957T>G	NP_001244894.1:p.Phe986Cys
NM_001257966.1:c.2129-708T>G	NP_001244895.1:n.2129-708T>G
NM_201253.2:c.3029T>G	NP_957705.1:p.Phe1010Cys
NR_047563.1:n.3030T>G
NR_047564.1:n.3238T>G
XM_011509365.1:c.3029T>G	XP_011507667.1:p.Phe1010Cys
XM_011509366.1:c.3029T>G	XP_011507668.1:p.Phe1010Cys
XM_011509367.1:c.3029T>G	XP_011507669.1:p.Phe1010Cys
XM_011509368.1:c.2447T>G	XP_011507670.1:p.Phe816Cys
XM_011509369.1:c.1472T>G	XP_011507671.1:p.Phe491Cys
XM_011509365.2:c.3029T>G	XP_011507667.1:p.Phe1010Cys
XM_011509369.2:c.1472T>G	XP_011507671.1:p.Phe491Cys
XM_017000851.1:c.2186T>G	XP_016856340.1:p.Phe729Cys
XM_017000852.1:c.3164T>G	XP_016856341.1:p.Phe1055Cys
NM_201253.3:c.3029T>G MANE Select	NP_957705.1:p.Phe1010Cys
NM_001193640.2:c.2693T>G	NP_001180569.1:p.Phe898Cys
NM_001257965.2:c.2957T>G	NP_001244894.1:p.Phe986Cys
NR_047563.2:n.2982T>G
NR_047564.2:n.3190T>G
NM_001257966.2:c.2129-708T>G	NP_001244895.1:n.2129-708T>G