Canonical Allele Identifier: CA1311789

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356888A>T , CM000663.2:g.197356888A>T	GRCh38
NC_000001.10:g.197326018A>T , CM000663.1:g.197326018A>T	GRCh37
NC_000001.9:g.195592641A>T	NCBI36
NG_008483.1:g.93611A>T
NG_008483.2:g.160427A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.1046A>T MANE Select	NP_957705.1:p.Gln349Leu
ENST00000367400.8:c.1046A>T MANE Select	ENSP00000356370.3:p.Gln349Leu
NM_001193640.1:c.710A>T	NP_001180569.1:p.Gln237Leu
NM_001193640.2:c.710A>T	NP_001180569.1:p.Gln237Leu
NM_001257965.1:c.839A>T	NP_001244894.1:p.Gln280Leu
NM_001257965.2:c.839A>T	NP_001244894.1:p.Gln280Leu
NM_001257966.1:c.1046A>T	NP_001244895.1:p.Gln349Leu
NM_001257966.2:c.1046A>T	NP_001244895.1:p.Gln349Leu
NM_201253.2:c.1046A>T	NP_957705.1:p.Gln349Leu
NR_047563.1:n.1255A>T
NR_047563.2:n.1207A>T
NR_047564.1:n.1255A>T
NR_047564.2:n.1207A>T
ENST00000367399.6:c.710A>T	ENSP00000356369.2:p.Gln237Leu
ENST00000367400.7:c.1046A>T	ENSP00000356370.3:p.Gln349Leu
ENST00000475659.1:n.1183A>T
ENST00000484075.5:c.1046A>T	ENSP00000433932.1:p.Gln349Leu
ENST00000535699.5:c.839A>T	ENSP00000438786.1:p.Gln280Leu
ENST00000538660.5:c.1046A>T	ENSP00000438091.1:p.Gln349Leu
ENST00000638467.1:c.1046A>T	ENSP00000491102.1:p.Gln349Leu
XM_011509365.1:c.1046A>T	XP_011507667.1:p.Gln349Leu
XM_011509365.2:c.1046A>T	XP_011507667.1:p.Gln349Leu
XM_011509366.1:c.1046A>T	XP_011507668.1:p.Gln349Leu
XM_011509367.1:c.1046A>T	XP_011507669.1:p.Gln349Leu
XM_011509368.1:c.464A>T	XP_011507670.1:p.Gln155Leu
XM_017000851.1:c.203A>T	XP_016856340.1:p.Gln68Leu
XM_017000852.1:c.1046A>T	XP_016856341.1:p.Gln349Leu