Canonical Allele Identifier: CA344046659

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404211T>A (hg19) ; chr1:g.197435081T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435081T>A , CM000663.2:g.197435081T>A	GRCh38
NC_000001.10:g.197404211T>A , CM000663.1:g.197404211T>A	GRCh37
NC_000001.9:g.195670834T>A	NCBI36
NG_008483.1:g.171804T>A
NG_008483.2:g.238620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3218T>A MANE Select	ENSP00000356370.3:p.Phe1073Tyr
ENST00000638467.1:c.3218T>A	ENSP00000491102.1:p.Phe1073Tyr
ENST00000681519.1:c.2099T>A	ENSP00000505267.1:p.Phe700Tyr
ENST00000367397.1:c.1361T>A	ENSP00000356367.1:p.Phe454Tyr
ENST00000367399.6:c.2882T>A	ENSP00000356369.2:p.Phe961Tyr
ENST00000367400.7:c.3218T>A	ENSP00000356370.3:p.Phe1073Tyr
ENST00000484075.5:c.3218T>A	ENSP00000433932.1:p.Phe1073Tyr
ENST00000535699.5:c.3146T>A	ENSP00000438786.1:p.Phe1049Tyr
ENST00000538660.5:c.2129-519T>A	ENSP00000438091.1:n.2129-519T>A
NM_001193640.1:c.2882T>A	NP_001180569.1:p.Phe961Tyr
NM_001257965.1:c.3146T>A	NP_001244894.1:p.Phe1049Tyr
NM_001257966.1:c.2129-519T>A	NP_001244895.1:n.2129-519T>A
NM_201253.2:c.3218T>A	NP_957705.1:p.Phe1073Tyr
NR_047563.1:n.3219T>A
NR_047564.1:n.3427T>A
XM_011509365.1:c.3218T>A	XP_011507667.1:p.Phe1073Tyr
XM_011509366.1:c.3218T>A	XP_011507668.1:p.Phe1073Tyr
XM_011509367.1:c.3218T>A	XP_011507669.1:p.Phe1073Tyr
XM_011509368.1:c.2636T>A	XP_011507670.1:p.Phe879Tyr
XM_011509369.1:c.1661T>A	XP_011507671.1:p.Phe554Tyr
XM_011509365.2:c.3218T>A	XP_011507667.1:p.Phe1073Tyr
XM_011509369.2:c.1661T>A	XP_011507671.1:p.Phe554Tyr
XM_017000851.1:c.2375T>A	XP_016856340.1:p.Phe792Tyr
XM_017000852.1:c.3353T>A	XP_016856341.1:p.Phe1118Tyr
NM_201253.3:c.3218T>A MANE Select	NP_957705.1:p.Phe1073Tyr
NM_001193640.2:c.2882T>A	NP_001180569.1:p.Phe961Tyr
NM_001257965.2:c.3146T>A	NP_001244894.1:p.Phe1049Tyr
NR_047563.2:n.3171T>A
NR_047564.2:n.3379T>A
NM_001257966.2:c.2129-519T>A	NP_001244895.1:n.2129-519T>A