Canonical Allele Identifier: CA344044723

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404021T>A (hg19) ; chr1:g.197434891T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434891T>A , CM000663.2:g.197434891T>A	GRCh38
NC_000001.10:g.197404021T>A , CM000663.1:g.197404021T>A	GRCh37
NC_000001.9:g.195670644T>A	NCBI36
NG_008483.1:g.171614T>A
NG_008483.2:g.238430T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3028T>A MANE Select	ENSP00000356370.3:p.Phe1010Ile
ENST00000638467.1:c.3028T>A	ENSP00000491102.1:p.Phe1010Ile
ENST00000681519.1:c.1909T>A	ENSP00000505267.1:p.Phe637Ile
ENST00000367397.1:c.1171T>A	ENSP00000356367.1:p.Phe391Ile
ENST00000367399.6:c.2692T>A	ENSP00000356369.2:p.Phe898Ile
ENST00000367400.7:c.3028T>A	ENSP00000356370.3:p.Phe1010Ile
ENST00000484075.5:c.3028T>A	ENSP00000433932.1:p.Phe1010Ile
ENST00000535699.5:c.2956T>A	ENSP00000438786.1:p.Phe986Ile
ENST00000538660.5:c.2129-709T>A	ENSP00000438091.1:n.2129-709T>A
NM_001193640.1:c.2692T>A	NP_001180569.1:p.Phe898Ile
NM_001257965.1:c.2956T>A	NP_001244894.1:p.Phe986Ile
NM_001257966.1:c.2129-709T>A	NP_001244895.1:n.2129-709T>A
NM_201253.2:c.3028T>A	NP_957705.1:p.Phe1010Ile
NR_047563.1:n.3029T>A
NR_047564.1:n.3237T>A
XM_011509365.1:c.3028T>A	XP_011507667.1:p.Phe1010Ile
XM_011509366.1:c.3028T>A	XP_011507668.1:p.Phe1010Ile
XM_011509367.1:c.3028T>A	XP_011507669.1:p.Phe1010Ile
XM_011509368.1:c.2446T>A	XP_011507670.1:p.Phe816Ile
XM_011509369.1:c.1471T>A	XP_011507671.1:p.Phe491Ile
XM_011509365.2:c.3028T>A	XP_011507667.1:p.Phe1010Ile
XM_011509369.2:c.1471T>A	XP_011507671.1:p.Phe491Ile
XM_017000851.1:c.2185T>A	XP_016856340.1:p.Phe729Ile
XM_017000852.1:c.3163T>A	XP_016856341.1:p.Phe1055Ile
NM_201253.3:c.3028T>A MANE Select	NP_957705.1:p.Phe1010Ile
NM_001193640.2:c.2692T>A	NP_001180569.1:p.Phe898Ile
NM_001257965.2:c.2956T>A	NP_001244894.1:p.Phe986Ile
NR_047563.2:n.2981T>A
NR_047564.2:n.3189T>A
NM_001257966.2:c.2129-709T>A	NP_001244895.1:n.2129-709T>A