Canonical Allele Identifier: CA344035969

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446972A>T (hg19) ; chr1:g.197477842A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477842A>T , CM000663.2:g.197477842A>T	GRCh38
NC_000001.10:g.197446972A>T , CM000663.1:g.197446972A>T	GRCh37
NC_000001.9:g.195713595A>T	NCBI36
NG_008483.1:g.214565A>T
NG_008483.2:g.281381A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4184A>T MANE Select	ENSP00000356370.3:p.Asn1395Ile
ENST00000367399.6:c.3848A>T	ENSP00000356369.2:p.Asn1283Ile
ENST00000367400.7:c.4184A>T	ENSP00000356370.3:p.Asn1395Ile
ENST00000448952.1:c.418A>T	ENSP00000395407.1:n.418A>T
ENST00000484075.5:c.*295A>T	ENSP00000433932.1:n.*295A>T
ENST00000535699.5:c.4112A>T	ENSP00000438786.1:p.Asn1371Ile
ENST00000538660.5:c.2576A>T	ENSP00000438091.1:p.Asn859Ile
NM_001193640.1:c.3848A>T	NP_001180569.1:p.Asn1283Ile
NM_001257965.1:c.4112A>T	NP_001244894.1:p.Asn1371Ile
NM_001257966.1:c.2576A>T	NP_001244895.1:p.Asn859Ile
NM_201253.2:c.4184A>T	NP_957705.1:p.Asn1395Ile
NR_047563.1:n.4185A>T
NR_047564.1:n.4635A>T
XM_011509366.1:c.*289A>T	XP_011507668.1:n.*289A>T
XM_011509367.1:c.*163A>T	XP_011507669.1:n.*163A>T
XM_011509368.1:c.3602A>T	XP_011507670.1:p.Asn1201Ile
XM_011509369.1:c.2627A>T	XP_011507671.1:p.Asn876Ile
XM_011509369.2:c.2627A>T	XP_011507671.1:p.Asn876Ile
XM_017000851.1:c.3341A>T	XP_016856340.1:p.Asn1114Ile
XM_017000852.1:c.4319A>T	XP_016856341.1:p.Asn1440Ile
NM_201253.3:c.4184A>T MANE Select	NP_957705.1:p.Asn1395Ile
NM_001193640.2:c.3848A>T	NP_001180569.1:p.Asn1283Ile
NM_001257965.2:c.4112A>T	NP_001244894.1:p.Asn1371Ile
NR_047563.2:n.4137A>T
NR_047564.2:n.4587A>T
NM_001257966.2:c.2576A>T	NP_001244895.1:p.Asn859Ile