Canonical Allele Identifier: CA344046464

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404174T>G (hg19) ; chr1:g.197435044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435044T>G , CM000663.2:g.197435044T>G	GRCh38
NC_000001.10:g.197404174T>G , CM000663.1:g.197404174T>G	GRCh37
NC_000001.9:g.195670797T>G	NCBI36
NG_008483.1:g.171767T>G
NG_008483.2:g.238583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3181T>G MANE Select	ENSP00000356370.3:p.Phe1061Val
ENST00000638467.1:c.3181T>G	ENSP00000491102.1:p.Phe1061Val
ENST00000681519.1:c.2062T>G	ENSP00000505267.1:p.Phe688Val
ENST00000367397.1:c.1324T>G	ENSP00000356367.1:p.Phe442Val
ENST00000367399.6:c.2845T>G	ENSP00000356369.2:p.Phe949Val
ENST00000367400.7:c.3181T>G	ENSP00000356370.3:p.Phe1061Val
ENST00000484075.5:c.3181T>G	ENSP00000433932.1:p.Phe1061Val
ENST00000535699.5:c.3109T>G	ENSP00000438786.1:p.Phe1037Val
ENST00000538660.5:c.2129-556T>G	ENSP00000438091.1:n.2129-556T>G
NM_001193640.1:c.2845T>G	NP_001180569.1:p.Phe949Val
NM_001257965.1:c.3109T>G	NP_001244894.1:p.Phe1037Val
NM_001257966.1:c.2129-556T>G	NP_001244895.1:n.2129-556T>G
NM_201253.2:c.3181T>G	NP_957705.1:p.Phe1061Val
NR_047563.1:n.3182T>G
NR_047564.1:n.3390T>G
XM_011509365.1:c.3181T>G	XP_011507667.1:p.Phe1061Val
XM_011509366.1:c.3181T>G	XP_011507668.1:p.Phe1061Val
XM_011509367.1:c.3181T>G	XP_011507669.1:p.Phe1061Val
XM_011509368.1:c.2599T>G	XP_011507670.1:p.Phe867Val
XM_011509369.1:c.1624T>G	XP_011507671.1:p.Phe542Val
XM_011509365.2:c.3181T>G	XP_011507667.1:p.Phe1061Val
XM_011509369.2:c.1624T>G	XP_011507671.1:p.Phe542Val
XM_017000851.1:c.2338T>G	XP_016856340.1:p.Phe780Val
XM_017000852.1:c.3316T>G	XP_016856341.1:p.Phe1106Val
NM_201253.3:c.3181T>G MANE Select	NP_957705.1:p.Phe1061Val
NM_001193640.2:c.2845T>G	NP_001180569.1:p.Phe949Val
NM_001257965.2:c.3109T>G	NP_001244894.1:p.Phe1037Val
NR_047563.2:n.3134T>G
NR_047564.2:n.3342T>G
NM_001257966.2:c.2129-556T>G	NP_001244895.1:n.2129-556T>G