Canonical Allele Identifier: CA35906753

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1046277
• ClinVar RCV Id: RCV001555331 ; RCV001350816 ; RCV003449979 ; RCV003449980 ; RCV003449981
• dbSNP Id: rs910299744
• gnomAD v4: 1-197434870-A-T
• MyVariant Identifiers: chr1:g.197404000A>T (hg19) ; chr1:g.197434870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434870A>T , CM000663.2:g.197434870A>T	GRCh38
NC_000001.10:g.197404000A>T , CM000663.1:g.197404000A>T	GRCh37
NC_000001.9:g.195670623A>T	NCBI36
NG_008483.1:g.171593A>T
NG_008483.2:g.238409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3007A>T MANE Select	ENSP00000356370.3:p.Ile1003Phe
ENST00000638467.1:c.3007A>T	ENSP00000491102.1:p.Ile1003Phe
ENST00000681519.1:c.1888A>T	ENSP00000505267.1:p.Ile630Phe
ENST00000367397.1:c.1150A>T	ENSP00000356367.1:p.Ile384Phe
ENST00000367399.6:c.2671A>T	ENSP00000356369.2:p.Ile891Phe
ENST00000367400.7:c.3007A>T	ENSP00000356370.3:p.Ile1003Phe
ENST00000484075.5:c.3007A>T	ENSP00000433932.1:p.Ile1003Phe
ENST00000535699.5:c.2935A>T	ENSP00000438786.1:p.Ile979Phe
ENST00000538660.5:c.2129-730A>T	ENSP00000438091.1:n.2129-730A>T
NM_001193640.1:c.2671A>T	NP_001180569.1:p.Ile891Phe
NM_001257965.1:c.2935A>T	NP_001244894.1:p.Ile979Phe
NM_001257966.1:c.2129-730A>T	NP_001244895.1:n.2129-730A>T
NM_201253.2:c.3007A>T	NP_957705.1:p.Ile1003Phe
NR_047563.1:n.3008A>T
NR_047564.1:n.3216A>T
XM_011509365.1:c.3007A>T	XP_011507667.1:p.Ile1003Phe
XM_011509366.1:c.3007A>T	XP_011507668.1:p.Ile1003Phe
XM_011509367.1:c.3007A>T	XP_011507669.1:p.Ile1003Phe
XM_011509368.1:c.2425A>T	XP_011507670.1:p.Ile809Phe
XM_011509369.1:c.1450A>T	XP_011507671.1:p.Ile484Phe
XM_011509365.2:c.3007A>T	XP_011507667.1:p.Ile1003Phe
XM_011509369.2:c.1450A>T	XP_011507671.1:p.Ile484Phe
XM_017000851.1:c.2164A>T	XP_016856340.1:p.Ile722Phe
XM_017000852.1:c.3142A>T	XP_016856341.1:p.Ile1048Phe
NM_201253.3:c.3007A>T MANE Select	NP_957705.1:p.Ile1003Phe
NM_001193640.2:c.2671A>T	NP_001180569.1:p.Ile891Phe
NM_001257965.2:c.2935A>T	NP_001244894.1:p.Ile979Phe
NR_047563.2:n.2960A>T
NR_047564.2:n.3168A>T
NM_001257966.2:c.2129-730A>T	NP_001244895.1:n.2129-730A>T