Canonical Allele Identifier: CA344036126

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447005T>A (hg19) ; chr1:g.197477875T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477875T>A , CM000663.2:g.197477875T>A	GRCh38
NC_000001.10:g.197447005T>A , CM000663.1:g.197447005T>A	GRCh37
NC_000001.9:g.195713628T>A	NCBI36
NG_008483.1:g.214598T>A
NG_008483.2:g.281414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4217T>A MANE Select	ENSP00000356370.3:p.Ile1406Asn
ENST00000367399.6:c.3881T>A	ENSP00000356369.2:p.Ile1294Asn
ENST00000367400.7:c.4217T>A	ENSP00000356370.3:p.Ile1406Asn
ENST00000448952.1:c.451T>A	ENSP00000395407.1:n.451T>A
ENST00000484075.5:c.*328T>A	ENSP00000433932.1:n.*328T>A
ENST00000535699.5:c.4145T>A	ENSP00000438786.1:p.Ile1382Asn
ENST00000538660.5:c.2609T>A	ENSP00000438091.1:p.Ile870Asn
NM_001193640.1:c.3881T>A	NP_001180569.1:p.Ile1294Asn
NM_001257965.1:c.4145T>A	NP_001244894.1:p.Ile1382Asn
NM_001257966.1:c.2609T>A	NP_001244895.1:p.Ile870Asn
NM_201253.2:c.4217T>A	NP_957705.1:p.Ile1406Asn
NR_047563.1:n.4218T>A
NR_047564.1:n.4668T>A
XM_011509366.1:c.*322T>A	XP_011507668.1:n.*322T>A
XM_011509367.1:c.*196T>A	XP_011507669.1:n.*196T>A
XM_011509368.1:c.3635T>A	XP_011507670.1:p.Ile1212Asn
XM_011509369.1:c.2660T>A	XP_011507671.1:p.Ile887Asn
XM_011509369.2:c.2660T>A	XP_011507671.1:p.Ile887Asn
XM_017000851.1:c.3374T>A	XP_016856340.1:p.Ile1125Asn
XM_017000852.1:c.4352T>A	XP_016856341.1:p.Ile1451Asn
NM_201253.3:c.4217T>A MANE Select	NP_957705.1:p.Ile1406Asn
NM_001193640.2:c.3881T>A	NP_001180569.1:p.Ile1294Asn
NM_001257965.2:c.4145T>A	NP_001244894.1:p.Ile1382Asn
NR_047563.2:n.4170T>A
NR_047564.2:n.4620T>A
NM_001257966.2:c.2609T>A	NP_001244895.1:p.Ile870Asn