Canonical Allele Identifier: CA344035433

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446810T>A (hg19) ; chr1:g.197477680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477680T>A , CM000663.2:g.197477680T>A	GRCh38
NC_000001.10:g.197446810T>A , CM000663.1:g.197446810T>A	GRCh37
NC_000001.9:g.195713433T>A	NCBI36
NG_008483.1:g.214403T>A
NG_008483.2:g.281219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4022T>A MANE Select	ENSP00000356370.3:p.Ile1341Asn
ENST00000367399.6:c.3686T>A	ENSP00000356369.2:p.Ile1229Asn
ENST00000367400.7:c.4022T>A	ENSP00000356370.3:p.Ile1341Asn
ENST00000448952.1:c.256T>A	ENSP00000395407.1:n.256T>A
ENST00000484075.5:c.*133T>A	ENSP00000433932.1:n.*133T>A
ENST00000535699.5:c.3950T>A	ENSP00000438786.1:p.Ile1317Asn
ENST00000538660.5:c.2414T>A	ENSP00000438091.1:p.Ile805Asn
NM_001193640.1:c.3686T>A	NP_001180569.1:p.Ile1229Asn
NM_001257965.1:c.3950T>A	NP_001244894.1:p.Ile1317Asn
NM_001257966.1:c.2414T>A	NP_001244895.1:p.Ile805Asn
NM_201253.2:c.4022T>A	NP_957705.1:p.Ile1341Asn
NR_047563.1:n.4023T>A
NR_047564.1:n.4473T>A
XM_011509366.1:c.*127T>A	XP_011507668.1:n.*127T>A
XM_011509367.1:c.*1T>A	XP_011507669.1:n.*1T>A
XM_011509368.1:c.3440T>A	XP_011507670.1:p.Ile1147Asn
XM_011509369.1:c.2465T>A	XP_011507671.1:p.Ile822Asn
XM_011509369.2:c.2465T>A	XP_011507671.1:p.Ile822Asn
XM_017000851.1:c.3179T>A	XP_016856340.1:p.Ile1060Asn
XM_017000852.1:c.4157T>A	XP_016856341.1:p.Ile1386Asn
NM_201253.3:c.4022T>A MANE Select	NP_957705.1:p.Ile1341Asn
NM_001193640.2:c.3686T>A	NP_001180569.1:p.Ile1229Asn
NM_001257965.2:c.3950T>A	NP_001244894.1:p.Ile1317Asn
NR_047563.2:n.3975T>A
NR_047564.2:n.4425T>A
NM_001257966.2:c.2414T>A	NP_001244895.1:p.Ile805Asn