Canonical Allele Identifier: CA344035967

Gene: CRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4184A>G MANE Select	ENSP00000356370.3:p.Asn1395Ser
ENST00000367399.6:c.3848A>G	ENSP00000356369.2:p.Asn1283Ser
ENST00000367400.7:c.4184A>G	ENSP00000356370.3:p.Asn1395Ser
ENST00000448952.1:c.418A>G	ENSP00000395407.1:n.418A>G
ENST00000484075.5:c.*295A>G	ENSP00000433932.1:n.*295A>G
ENST00000535699.5:c.4112A>G	ENSP00000438786.1:p.Asn1371Ser
ENST00000538660.5:c.2576A>G	ENSP00000438091.1:p.Asn859Ser
NM_001193640.1:c.3848A>G	NP_001180569.1:p.Asn1283Ser
NM_001257965.1:c.4112A>G	NP_001244894.1:p.Asn1371Ser
NM_001257966.1:c.2576A>G	NP_001244895.1:p.Asn859Ser
NM_201253.2:c.4184A>G	NP_957705.1:p.Asn1395Ser
NR_047563.1:n.4185A>G
NR_047564.1:n.4635A>G
XM_011509366.1:c.*289A>G	XP_011507668.1:n.*289A>G
XM_011509367.1:c.*163A>G	XP_011507669.1:n.*163A>G
XM_011509368.1:c.3602A>G	XP_011507670.1:p.Asn1201Ser
XM_011509369.1:c.2627A>G	XP_011507671.1:p.Asn876Ser
XM_011509369.2:c.2627A>G	XP_011507671.1:p.Asn876Ser
XM_017000851.1:c.3341A>G	XP_016856340.1:p.Asn1114Ser
XM_017000852.1:c.4319A>G	XP_016856341.1:p.Asn1440Ser
NM_201253.3:c.4184A>G MANE Select	NP_957705.1:p.Asn1395Ser
NM_001193640.2:c.3848A>G	NP_001180569.1:p.Asn1283Ser
NM_001257965.2:c.4112A>G	NP_001244894.1:p.Asn1371Ser
NR_047563.2:n.4137A>G
NR_047564.2:n.4587A>G
NM_001257966.2:c.2576A>G	NP_001244895.1:p.Asn859Ser