Canonical Allele Identifier: CA344035964

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446971A>T (hg19) ; chr1:g.197477841A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477841A>T , CM000663.2:g.197477841A>T	GRCh38
NC_000001.10:g.197446971A>T , CM000663.1:g.197446971A>T	GRCh37
NC_000001.9:g.195713594A>T	NCBI36
NG_008483.1:g.214564A>T
NG_008483.2:g.281380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4183A>T MANE Select	ENSP00000356370.3:p.Asn1395Tyr
ENST00000367399.6:c.3847A>T	ENSP00000356369.2:p.Asn1283Tyr
ENST00000367400.7:c.4183A>T	ENSP00000356370.3:p.Asn1395Tyr
ENST00000448952.1:c.417A>T	ENSP00000395407.1:n.417A>T
ENST00000484075.5:c.*294A>T	ENSP00000433932.1:n.*294A>T
ENST00000535699.5:c.4111A>T	ENSP00000438786.1:p.Asn1371Tyr
ENST00000538660.5:c.2575A>T	ENSP00000438091.1:p.Asn859Tyr
NM_001193640.1:c.3847A>T	NP_001180569.1:p.Asn1283Tyr
NM_001257965.1:c.4111A>T	NP_001244894.1:p.Asn1371Tyr
NM_001257966.1:c.2575A>T	NP_001244895.1:p.Asn859Tyr
NM_201253.2:c.4183A>T	NP_957705.1:p.Asn1395Tyr
NR_047563.1:n.4184A>T
NR_047564.1:n.4634A>T
XM_011509366.1:c.*288A>T	XP_011507668.1:n.*288A>T
XM_011509367.1:c.*162A>T	XP_011507669.1:n.*162A>T
XM_011509368.1:c.3601A>T	XP_011507670.1:p.Asn1201Tyr
XM_011509369.1:c.2626A>T	XP_011507671.1:p.Asn876Tyr
XM_011509369.2:c.2626A>T	XP_011507671.1:p.Asn876Tyr
XM_017000851.1:c.3340A>T	XP_016856340.1:p.Asn1114Tyr
XM_017000852.1:c.4318A>T	XP_016856341.1:p.Asn1440Tyr
NM_201253.3:c.4183A>T MANE Select	NP_957705.1:p.Asn1395Tyr
NM_001193640.2:c.3847A>T	NP_001180569.1:p.Asn1283Tyr
NM_001257965.2:c.4111A>T	NP_001244894.1:p.Asn1371Tyr
NR_047563.2:n.4136A>T
NR_047564.2:n.4586A>T
NM_001257966.2:c.2575A>T	NP_001244895.1:p.Asn859Tyr