Canonical Allele Identifier: CA422677617

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446988T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477858T>G , CM000663.2:g.197477858T>G	GRCh38
NC_000001.10:g.197446988T>G , CM000663.1:g.197446988T>G	GRCh37
NC_000001.9:g.195713611T>G	NCBI36
NG_008483.1:g.214581T>G
NG_008483.2:g.281397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4200T>G MANE Select	ENSP00000356370.3:p.Pro1400=
ENST00000367399.6:c.3864T>G	ENSP00000356369.2:p.Pro1288=
ENST00000367400.7:c.4200T>G	ENSP00000356370.3:p.Pro1400=
ENST00000448952.1:c.434T>G	ENSP00000395407.1:n.434T>G
ENST00000484075.5:c.*311T>G	ENSP00000433932.1:n.*311T>G
ENST00000535699.5:c.4128T>G	ENSP00000438786.1:p.Pro1376=
ENST00000538660.5:c.2592T>G	ENSP00000438091.1:p.Pro864=
NM_001193640.1:c.3864T>G	NP_001180569.1:p.Pro1288=
NM_001257965.1:c.4128T>G	NP_001244894.1:p.Pro1376=
NM_001257966.1:c.2592T>G	NP_001244895.1:p.Pro864=
NM_201253.2:c.4200T>G	NP_957705.1:p.Pro1400=
NR_047563.1:n.4201T>G
NR_047564.1:n.4651T>G
XM_011509366.1:c.*305T>G	XP_011507668.1:n.*305T>G
XM_011509367.1:c.*179T>G	XP_011507669.1:n.*179T>G
XM_011509368.1:c.3618T>G	XP_011507670.1:p.Pro1206=
XM_011509369.1:c.2643T>G	XP_011507671.1:p.Pro881=
XM_011509369.2:c.2643T>G	XP_011507671.1:p.Pro881=
XM_017000851.1:c.3357T>G	XP_016856340.1:p.Pro1119=
XM_017000852.1:c.4335T>G	XP_016856341.1:p.Pro1445=
NM_201253.3:c.4200T>G MANE Select	NP_957705.1:p.Pro1400=
NM_001193640.2:c.3864T>G	NP_001180569.1:p.Pro1288=
NM_001257965.2:c.4128T>G	NP_001244894.1:p.Pro1376=
NR_047563.2:n.4153T>G
NR_047564.2:n.4603T>G
NM_001257966.2:c.2592T>G	NP_001244895.1:p.Pro864=