Canonical Allele Identifier: CA344032831

Gene: CRB1

Linked Data

• COSMIC: COSM259121 ; COSM4026655
• MyVariant Identifiers: chr1:g.197390846T>G (hg19) ; chr1:g.197421716T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421716T>G , CM000663.2:g.197421716T>G	GRCh38
NC_000001.10:g.197390846T>G , CM000663.1:g.197390846T>G	GRCh37
NC_000001.9:g.195657469T>G	NCBI36
NG_008483.1:g.158439T>G
NG_008483.2:g.225255T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1888T>G MANE Select	ENSP00000356370.3:p.Phe630Val
ENST00000638467.1:c.1888T>G	ENSP00000491102.1:p.Phe630Val
ENST00000681519.1:c.769T>G	ENSP00000505267.1:p.Phe257Val
ENST00000367397.1:c.31T>G	ENSP00000356367.1:p.Phe11Val
ENST00000367399.6:c.1552T>G	ENSP00000356369.2:p.Phe518Val
ENST00000367400.7:c.1888T>G	ENSP00000356370.3:p.Phe630Val
ENST00000484075.5:c.1888T>G	ENSP00000433932.1:p.Phe630Val
ENST00000535699.5:c.1681T>G	ENSP00000438786.1:p.Phe561Val
ENST00000538660.5:c.1888T>G	ENSP00000438091.1:p.Phe630Val
NM_001193640.1:c.1552T>G	NP_001180569.1:p.Phe518Val
NM_001257965.1:c.1681T>G	NP_001244894.1:p.Phe561Val
NM_001257966.1:c.1888T>G	NP_001244895.1:p.Phe630Val
NM_201253.2:c.1888T>G	NP_957705.1:p.Phe630Val
NR_047563.1:n.1923-34T>G
NR_047564.1:n.2097T>G
XM_011509365.1:c.1888T>G	XP_011507667.1:p.Phe630Val
XM_011509366.1:c.1888T>G	XP_011507668.1:p.Phe630Val
XM_011509367.1:c.1888T>G	XP_011507669.1:p.Phe630Val
XM_011509368.1:c.1306T>G	XP_011507670.1:p.Phe436Val
XM_011509369.1:c.331T>G	XP_011507671.1:p.Phe111Val
XM_011509365.2:c.1888T>G	XP_011507667.1:p.Phe630Val
XM_011509369.2:c.331T>G	XP_011507671.1:p.Phe111Val
XM_017000851.1:c.1045T>G	XP_016856340.1:p.Phe349Val
XM_017000852.1:c.1888T>G	XP_016856341.1:p.Phe630Val
NM_201253.3:c.1888T>G MANE Select	NP_957705.1:p.Phe630Val
NM_001193640.2:c.1552T>G	NP_001180569.1:p.Phe518Val
NM_001257965.2:c.1681T>G	NP_001244894.1:p.Phe561Val
NR_047563.2:n.1875-34T>G
NR_047564.2:n.2049T>G
NM_001257966.2:c.1888T>G	NP_001244895.1:p.Phe630Val