Canonical Allele Identifier: CA344043441

Gene: CRB1

Linked Data

• COSMIC: COSM3803366 ; COSM3803367
• MyVariant Identifiers: chr1:g.197403901A>G (hg19) ; chr1:g.197434771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434771A>G , CM000663.2:g.197434771A>G	GRCh38
NC_000001.10:g.197403901A>G , CM000663.1:g.197403901A>G	GRCh37
NC_000001.9:g.195670524A>G	NCBI36
NG_008483.1:g.171494A>G
NG_008483.2:g.238310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2908A>G MANE Select	ENSP00000356370.3:p.Thr970Ala
ENST00000638467.1:c.2908A>G	ENSP00000491102.1:p.Thr970Ala
ENST00000681519.1:c.1789A>G	ENSP00000505267.1:p.Thr597Ala
ENST00000367397.1:c.1051A>G	ENSP00000356367.1:p.Thr351Ala
ENST00000367399.6:c.2572A>G	ENSP00000356369.2:p.Thr858Ala
ENST00000367400.7:c.2908A>G	ENSP00000356370.3:p.Thr970Ala
ENST00000484075.5:c.2908A>G	ENSP00000433932.1:p.Thr970Ala
ENST00000535699.5:c.2836A>G	ENSP00000438786.1:p.Thr946Ala
ENST00000538660.5:c.2129-829A>G	ENSP00000438091.1:n.2129-829A>G
NM_001193640.1:c.2572A>G	NP_001180569.1:p.Thr858Ala
NM_001257965.1:c.2836A>G	NP_001244894.1:p.Thr946Ala
NM_001257966.1:c.2129-829A>G	NP_001244895.1:n.2129-829A>G
NM_201253.2:c.2908A>G	NP_957705.1:p.Thr970Ala
NR_047563.1:n.2909A>G
NR_047564.1:n.3117A>G
XM_011509365.1:c.2908A>G	XP_011507667.1:p.Thr970Ala
XM_011509366.1:c.2908A>G	XP_011507668.1:p.Thr970Ala
XM_011509367.1:c.2908A>G	XP_011507669.1:p.Thr970Ala
XM_011509368.1:c.2326A>G	XP_011507670.1:p.Thr776Ala
XM_011509369.1:c.1351A>G	XP_011507671.1:p.Thr451Ala
XM_011509365.2:c.2908A>G	XP_011507667.1:p.Thr970Ala
XM_011509369.2:c.1351A>G	XP_011507671.1:p.Thr451Ala
XM_017000851.1:c.2065A>G	XP_016856340.1:p.Thr689Ala
XM_017000852.1:c.3043A>G	XP_016856341.1:p.Thr1015Ala
NM_201253.3:c.2908A>G MANE Select	NP_957705.1:p.Thr970Ala
NM_001193640.2:c.2572A>G	NP_001180569.1:p.Thr858Ala
NM_001257965.2:c.2836A>G	NP_001244894.1:p.Thr946Ala
NR_047563.2:n.2861A>G
NR_047564.2:n.3069A>G
NM_001257966.2:c.2129-829A>G	NP_001244895.1:n.2129-829A>G