Canonical Allele Identifier: CA344038325

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427895T>G , CM000663.2:g.197427895T>G	GRCh38
NC_000001.10:g.197397025T>G , CM000663.1:g.197397025T>G	GRCh37
NC_000001.9:g.195663648T>G	NCBI36
NG_008483.1:g.164618T>G
NG_008483.2:g.231434T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2570T>G MANE Select	NP_957705.1:p.Leu857Arg
ENST00000367400.8:c.2570T>G MANE Select	ENSP00000356370.3:p.Leu857Arg
NM_001193640.1:c.2234T>G	NP_001180569.1:p.Leu745Arg
NM_001193640.2:c.2234T>G	NP_001180569.1:p.Leu745Arg
NM_001257965.1:c.2363T>G	NP_001244894.1:p.Leu788Arg
NM_001257965.2:c.2363T>G	NP_001244894.1:p.Leu788Arg
NM_001257966.1:c.2128+5939T>G	NP_001244895.1:n.2128+5939T>G
NM_001257966.2:c.2128+5939T>G	NP_001244895.1:n.2128+5939T>G
NM_201253.2:c.2570T>G	NP_957705.1:p.Leu857Arg
NR_047563.1:n.2571T>G
NR_047563.2:n.2523T>G
NR_047564.1:n.2779T>G
NR_047564.2:n.2731T>G
ENST00000367397.1:c.713T>G	ENSP00000356367.1:p.Leu238Arg
ENST00000367399.6:c.2234T>G	ENSP00000356369.2:p.Leu745Arg
ENST00000367400.7:c.2570T>G	ENSP00000356370.3:p.Leu857Arg
ENST00000484075.5:c.2570T>G	ENSP00000433932.1:p.Leu857Arg
ENST00000535699.5:c.2363T>G	ENSP00000438786.1:p.Leu788Arg
ENST00000538660.5:c.2128+5939T>G	ENSP00000438091.1:n.2128+5939T>G
ENST00000638467.1:c.2570T>G	ENSP00000491102.1:p.Leu857Arg
ENST00000681519.1:c.1451T>G	ENSP00000505267.1:p.Leu484Arg
XM_011509365.1:c.2570T>G	XP_011507667.1:p.Leu857Arg
XM_011509365.2:c.2570T>G	XP_011507667.1:p.Leu857Arg
XM_011509366.1:c.2570T>G	XP_011507668.1:p.Leu857Arg
XM_011509367.1:c.2570T>G	XP_011507669.1:p.Leu857Arg
XM_011509368.1:c.1988T>G	XP_011507670.1:p.Leu663Arg
XM_011509369.1:c.1013T>G	XP_011507671.1:p.Leu338Arg
XM_011509369.2:c.1013T>G	XP_011507671.1:p.Leu338Arg
XM_017000851.1:c.1727T>G	XP_016856340.1:p.Leu576Arg
XM_017000852.1:c.2570T>G	XP_016856341.1:p.Leu857Arg