Canonical Allele Identifier: CA344047676

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435278C>T , CM000663.2:g.197435278C>T	GRCh38
NC_000001.10:g.197404408C>T , CM000663.1:g.197404408C>T	GRCh37
NC_000001.9:g.195671031C>T	NCBI36
NG_008483.1:g.172001C>T
NG_008483.2:g.238817C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3415C>T MANE Select	NP_957705.1:p.Gln1139Ter
ENST00000367400.8:c.3415C>T MANE Select	ENSP00000356370.3:p.Gln1139Ter
NM_001193640.1:c.3079C>T	NP_001180569.1:p.Gln1027Ter
NM_001193640.2:c.3079C>T	NP_001180569.1:p.Gln1027Ter
NM_001257965.1:c.3343C>T	NP_001244894.1:p.Gln1115Ter
NM_001257965.2:c.3343C>T	NP_001244894.1:p.Gln1115Ter
NM_001257966.1:c.2129-322C>T	NP_001244895.1:n.2129-322C>T
NM_001257966.2:c.2129-322C>T	NP_001244895.1:n.2129-322C>T
NM_201253.2:c.3415C>T	NP_957705.1:p.Gln1139Ter
NR_047563.1:n.3416C>T
NR_047563.2:n.3368C>T
NR_047564.1:n.3624C>T
NR_047564.2:n.3576C>T
ENST00000367397.1:c.1558C>T	ENSP00000356367.1:p.Gln520Ter
ENST00000367399.6:c.3079C>T	ENSP00000356369.2:p.Gln1027Ter
ENST00000367400.7:c.3415C>T	ENSP00000356370.3:p.Gln1139Ter
ENST00000484075.5:c.3415C>T	ENSP00000433932.1:p.Gln1139Ter
ENST00000535699.5:c.3343C>T	ENSP00000438786.1:p.Gln1115Ter
ENST00000538660.5:c.2129-322C>T	ENSP00000438091.1:n.2129-322C>T
ENST00000638467.1:c.3415C>T	ENSP00000491102.1:p.Gln1139Ter
ENST00000681519.1:c.2296C>T	ENSP00000505267.1:p.Gln766Ter
XM_011509365.1:c.3415C>T	XP_011507667.1:p.Gln1139Ter
XM_011509365.2:c.3415C>T	XP_011507667.1:p.Gln1139Ter
XM_011509366.1:c.3415C>T	XP_011507668.1:p.Gln1139Ter
XM_011509367.1:c.3415C>T	XP_011507669.1:p.Gln1139Ter
XM_011509368.1:c.2833C>T	XP_011507670.1:p.Gln945Ter
XM_011509369.1:c.1858C>T	XP_011507671.1:p.Gln620Ter
XM_011509369.2:c.1858C>T	XP_011507671.1:p.Gln620Ter
XM_017000851.1:c.2572C>T	XP_016856340.1:p.Gln858Ter
XM_017000852.1:c.3550C>T	XP_016856341.1:p.Gln1184Ter