Canonical Allele Identifier: CA1312349

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435395A>G , CM000663.2:g.197435395A>G	GRCh38
NC_000001.10:g.197404525A>G , CM000663.1:g.197404525A>G	GRCh37
NC_000001.9:g.195671148A>G	NCBI36
NG_008483.1:g.172118A>G
NG_008483.2:g.238934A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3532A>G MANE Select	NP_957705.1:p.Ile1178Val
ENST00000367400.8:c.3532A>G MANE Select	ENSP00000356370.3:p.Ile1178Val
NM_001193640.1:c.3196A>G	NP_001180569.1:p.Ile1066Val
NM_001193640.2:c.3196A>G	NP_001180569.1:p.Ile1066Val
NM_001257965.1:c.3460A>G	NP_001244894.1:p.Ile1154Val
NM_001257965.2:c.3460A>G	NP_001244894.1:p.Ile1154Val
NM_001257966.1:c.2129-205A>G	NP_001244895.1:n.2129-205A>G
NM_001257966.2:c.2129-205A>G	NP_001244895.1:n.2129-205A>G
NM_201253.2:c.3532A>G	NP_957705.1:p.Ile1178Val
NR_047563.1:n.3533A>G
NR_047563.2:n.3485A>G
NR_047564.1:n.3741A>G
NR_047564.2:n.3693A>G
ENST00000367397.1:c.1675A>G	ENSP00000356367.1:p.Ile559Val
ENST00000367399.6:c.3196A>G	ENSP00000356369.2:p.Ile1066Val
ENST00000367400.7:c.3532A>G	ENSP00000356370.3:p.Ile1178Val
ENST00000484075.5:c.3532A>G	ENSP00000433932.1:p.Ile1178Val
ENST00000535699.5:c.3460A>G	ENSP00000438786.1:p.Ile1154Val
ENST00000538660.5:c.2129-205A>G	ENSP00000438091.1:n.2129-205A>G
ENST00000638467.1:c.3532A>G	ENSP00000491102.1:p.Ile1178Val
ENST00000681519.1:c.2413A>G	ENSP00000505267.1:p.Ile805Val
XM_011509365.1:c.3532A>G	XP_011507667.1:p.Ile1178Val
XM_011509365.2:c.3532A>G	XP_011507667.1:p.Ile1178Val
XM_011509366.1:c.3532A>G	XP_011507668.1:p.Ile1178Val
XM_011509367.1:c.3532A>G	XP_011507669.1:p.Ile1178Val
XM_011509368.1:c.2950A>G	XP_011507670.1:p.Ile984Val
XM_011509369.1:c.1975A>G	XP_011507671.1:p.Ile659Val
XM_011509369.2:c.1975A>G	XP_011507671.1:p.Ile659Val
XM_017000851.1:c.2689A>G	XP_016856340.1:p.Ile897Val
XM_017000852.1:c.3667A>G	XP_016856341.1:p.Ile1223Val