Canonical Allele Identifier: CA344035966

Gene: CRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4184A>C MANE Select	ENSP00000356370.3:p.Asn1395Thr
ENST00000367399.6:c.3848A>C	ENSP00000356369.2:p.Asn1283Thr
ENST00000367400.7:c.4184A>C	ENSP00000356370.3:p.Asn1395Thr
ENST00000448952.1:c.418A>C	ENSP00000395407.1:n.418A>C
ENST00000484075.5:c.*295A>C	ENSP00000433932.1:n.*295A>C
ENST00000535699.5:c.4112A>C	ENSP00000438786.1:p.Asn1371Thr
ENST00000538660.5:c.2576A>C	ENSP00000438091.1:p.Asn859Thr
NM_001193640.1:c.3848A>C	NP_001180569.1:p.Asn1283Thr
NM_001257965.1:c.4112A>C	NP_001244894.1:p.Asn1371Thr
NM_001257966.1:c.2576A>C	NP_001244895.1:p.Asn859Thr
NM_201253.2:c.4184A>C	NP_957705.1:p.Asn1395Thr
NR_047563.1:n.4185A>C
NR_047564.1:n.4635A>C
XM_011509366.1:c.*289A>C	XP_011507668.1:n.*289A>C
XM_011509367.1:c.*163A>C	XP_011507669.1:n.*163A>C
XM_011509368.1:c.3602A>C	XP_011507670.1:p.Asn1201Thr
XM_011509369.1:c.2627A>C	XP_011507671.1:p.Asn876Thr
XM_011509369.2:c.2627A>C	XP_011507671.1:p.Asn876Thr
XM_017000851.1:c.3341A>C	XP_016856340.1:p.Asn1114Thr
XM_017000852.1:c.4319A>C	XP_016856341.1:p.Asn1440Thr
NM_201253.3:c.4184A>C MANE Select	NP_957705.1:p.Asn1395Thr
NM_001193640.2:c.3848A>C	NP_001180569.1:p.Asn1283Thr
NM_001257965.2:c.4112A>C	NP_001244894.1:p.Asn1371Thr
NR_047563.2:n.4137A>C
NR_047564.2:n.4587A>C
NM_001257966.2:c.2576A>C	NP_001244895.1:p.Asn859Thr