Canonical Allele Identifier: CA344035395

Gene: CRB1

Linked Data

• COSMIC: COSM349912
• MyVariant Identifiers: chr1:g.197446800G>A (hg19) ; chr1:g.197477670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477670G>A , CM000663.2:g.197477670G>A	GRCh38
NC_000001.10:g.197446800G>A , CM000663.1:g.197446800G>A	GRCh37
NC_000001.9:g.195713423G>A	NCBI36
NG_008483.1:g.214393G>A
NG_008483.2:g.281209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4012G>A MANE Select	ENSP00000356370.3:p.Asp1338Asn
ENST00000367399.6:c.3676G>A	ENSP00000356369.2:p.Asp1226Asn
ENST00000367400.7:c.4012G>A	ENSP00000356370.3:p.Asp1338Asn
ENST00000448952.1:c.246G>A	ENSP00000395407.1:n.246G>A
ENST00000484075.5:c.*123G>A	ENSP00000433932.1:n.*123G>A
ENST00000535699.5:c.3940G>A	ENSP00000438786.1:p.Asp1314Asn
ENST00000538660.5:c.2404G>A	ENSP00000438091.1:p.Asp802Asn
NM_001193640.1:c.3676G>A	NP_001180569.1:p.Asp1226Asn
NM_001257965.1:c.3940G>A	NP_001244894.1:p.Asp1314Asn
NM_001257966.1:c.2404G>A	NP_001244895.1:p.Asp802Asn
NM_201253.2:c.4012G>A	NP_957705.1:p.Asp1338Asn
NR_047563.1:n.4013G>A
NR_047564.1:n.4463G>A
XM_011509366.1:c.*117G>A	XP_011507668.1:n.*117G>A
XM_011509367.1:c.3885G>A	XP_011507669.1:p.Gln1295=
XM_011509368.1:c.3430G>A	XP_011507670.1:p.Asp1144Asn
XM_011509369.1:c.2455G>A	XP_011507671.1:p.Asp819Asn
XM_011509369.2:c.2455G>A	XP_011507671.1:p.Asp819Asn
XM_017000851.1:c.3169G>A	XP_016856340.1:p.Asp1057Asn
XM_017000852.1:c.4147G>A	XP_016856341.1:p.Asp1383Asn
NM_201253.3:c.4012G>A MANE Select	NP_957705.1:p.Asp1338Asn
NM_001193640.2:c.3676G>A	NP_001180569.1:p.Asp1226Asn
NM_001257965.2:c.3940G>A	NP_001244894.1:p.Asp1314Asn
NR_047563.2:n.3965G>A
NR_047564.2:n.4415G>A
NM_001257966.2:c.2404G>A	NP_001244895.1:p.Asp802Asn