Canonical Allele Identifier: CA344043420

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434768-A-T
• MyVariant Identifiers: chr1:g.197403898A>T (hg19) ; chr1:g.197434768A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434768A>T , CM000663.2:g.197434768A>T	GRCh38
NC_000001.10:g.197403898A>T , CM000663.1:g.197403898A>T	GRCh37
NC_000001.9:g.195670521A>T	NCBI36
NG_008483.1:g.171491A>T
NG_008483.2:g.238307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2905A>T MANE Select	ENSP00000356370.3:p.Ile969Phe
ENST00000638467.1:c.2905A>T	ENSP00000491102.1:p.Ile969Phe
ENST00000681519.1:c.1786A>T	ENSP00000505267.1:p.Ile596Phe
ENST00000367397.1:c.1048A>T	ENSP00000356367.1:p.Ile350Phe
ENST00000367399.6:c.2569A>T	ENSP00000356369.2:p.Ile857Phe
ENST00000367400.7:c.2905A>T	ENSP00000356370.3:p.Ile969Phe
ENST00000484075.5:c.2905A>T	ENSP00000433932.1:p.Ile969Phe
ENST00000535699.5:c.2833A>T	ENSP00000438786.1:p.Ile945Phe
ENST00000538660.5:c.2129-832A>T	ENSP00000438091.1:n.2129-832A>T
NM_001193640.1:c.2569A>T	NP_001180569.1:p.Ile857Phe
NM_001257965.1:c.2833A>T	NP_001244894.1:p.Ile945Phe
NM_001257966.1:c.2129-832A>T	NP_001244895.1:n.2129-832A>T
NM_201253.2:c.2905A>T	NP_957705.1:p.Ile969Phe
NR_047563.1:n.2906A>T
NR_047564.1:n.3114A>T
XM_011509365.1:c.2905A>T	XP_011507667.1:p.Ile969Phe
XM_011509366.1:c.2905A>T	XP_011507668.1:p.Ile969Phe
XM_011509367.1:c.2905A>T	XP_011507669.1:p.Ile969Phe
XM_011509368.1:c.2323A>T	XP_011507670.1:p.Ile775Phe
XM_011509369.1:c.1348A>T	XP_011507671.1:p.Ile450Phe
XM_011509365.2:c.2905A>T	XP_011507667.1:p.Ile969Phe
XM_011509369.2:c.1348A>T	XP_011507671.1:p.Ile450Phe
XM_017000851.1:c.2062A>T	XP_016856340.1:p.Ile688Phe
XM_017000852.1:c.3040A>T	XP_016856341.1:p.Ile1014Phe
NM_201253.3:c.2905A>T MANE Select	NP_957705.1:p.Ile969Phe
NM_001193640.2:c.2569A>T	NP_001180569.1:p.Ile857Phe
NM_001257965.2:c.2833A>T	NP_001244894.1:p.Ile945Phe
NR_047563.2:n.2858A>T
NR_047564.2:n.3066A>T
NM_001257966.2:c.2129-832A>T	NP_001244895.1:n.2129-832A>T