Canonical Allele Identifier: CA344037870

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396964G>A (hg19) ; chr1:g.197427834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427834G>A , CM000663.2:g.197427834G>A	GRCh38
NC_000001.10:g.197396964G>A , CM000663.1:g.197396964G>A	GRCh37
NC_000001.9:g.195663587G>A	NCBI36
NG_008483.1:g.164557G>A
NG_008483.2:g.231373G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2509G>A MANE Select	ENSP00000356370.3:p.Asp837Asn
ENST00000638467.1:c.2509G>A	ENSP00000491102.1:p.Asp837Asn
ENST00000681519.1:c.1390G>A	ENSP00000505267.1:p.Asp464Asn
ENST00000367397.1:c.652G>A	ENSP00000356367.1:p.Asp218Asn
ENST00000367399.6:c.2173G>A	ENSP00000356369.2:p.Asp725Asn
ENST00000367400.7:c.2509G>A	ENSP00000356370.3:p.Asp837Asn
ENST00000480086.2:n.410G>A
ENST00000484075.5:c.2509G>A	ENSP00000433932.1:p.Asp837Asn
ENST00000535699.5:c.2302G>A	ENSP00000438786.1:p.Asp768Asn
ENST00000538660.5:c.2128+5878G>A	ENSP00000438091.1:n.2128+5878G>A
NM_001193640.1:c.2173G>A	NP_001180569.1:p.Asp725Asn
NM_001257965.1:c.2302G>A	NP_001244894.1:p.Asp768Asn
NM_001257966.1:c.2128+5878G>A	NP_001244895.1:n.2128+5878G>A
NM_201253.2:c.2509G>A	NP_957705.1:p.Asp837Asn
NR_047563.1:n.2510G>A
NR_047564.1:n.2718G>A
XM_011509365.1:c.2509G>A	XP_011507667.1:p.Asp837Asn
XM_011509366.1:c.2509G>A	XP_011507668.1:p.Asp837Asn
XM_011509367.1:c.2509G>A	XP_011507669.1:p.Asp837Asn
XM_011509368.1:c.1927G>A	XP_011507670.1:p.Asp643Asn
XM_011509369.1:c.952G>A	XP_011507671.1:p.Asp318Asn
XM_011509365.2:c.2509G>A	XP_011507667.1:p.Asp837Asn
XM_011509369.2:c.952G>A	XP_011507671.1:p.Asp318Asn
XM_017000851.1:c.1666G>A	XP_016856340.1:p.Asp556Asn
XM_017000852.1:c.2509G>A	XP_016856341.1:p.Asp837Asn
NM_201253.3:c.2509G>A MANE Select	NP_957705.1:p.Asp837Asn
NM_001193640.2:c.2173G>A	NP_001180569.1:p.Asp725Asn
NM_001257965.2:c.2302G>A	NP_001244894.1:p.Asp768Asn
NR_047563.2:n.2462G>A
NR_047564.2:n.2670G>A
NM_001257966.2:c.2128+5878G>A	NP_001244895.1:n.2128+5878G>A