Canonical Allele Identifier: CA344052606

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442239A>T , CM000663.2:g.197442239A>T	GRCh38
NC_000001.10:g.197411369A>T , CM000663.1:g.197411369A>T	GRCh37
NC_000001.9:g.195677992A>T	NCBI36
NG_008483.1:g.178962A>T
NG_008483.2:g.245778A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3952A>T MANE Select	NP_957705.1:p.Lys1318Ter
ENST00000367400.8:c.3952A>T MANE Select	ENSP00000356370.3:p.Lys1318Ter
NM_001193640.1:c.3616A>T	NP_001180569.1:p.Lys1206Ter
NM_001193640.2:c.3616A>T	NP_001180569.1:p.Lys1206Ter
NM_001257965.1:c.3880A>T	NP_001244894.1:p.Lys1294Ter
NM_001257965.2:c.3880A>T	NP_001244894.1:p.Lys1294Ter
NM_001257966.1:c.2344A>T	NP_001244895.1:p.Lys782Ter
NM_001257966.2:c.2344A>T	NP_001244895.1:p.Lys782Ter
NM_201253.2:c.3952A>T	NP_957705.1:p.Lys1318Ter
NR_047563.1:n.3953A>T
NR_047563.2:n.3905A>T
NR_047564.1:n.4161A>T
NR_047564.2:n.4113A>T
ENST00000367397.1:c.*3560A>T	ENSP00000356367.1:n.*3560A>T
ENST00000367399.6:c.3616A>T	ENSP00000356369.2:p.Lys1206Ter
ENST00000367400.7:c.3952A>T	ENSP00000356370.3:p.Lys1318Ter
ENST00000448952.1:c.70A>T	ENSP00000395407.1:p.Lys24Ter
ENST00000484075.5:c.3952A>T	ENSP00000433932.1:p.Lys1318Ter
ENST00000535699.5:c.3880A>T	ENSP00000438786.1:p.Lys1294Ter
ENST00000538660.5:c.2344A>T	ENSP00000438091.1:p.Lys782Ter
ENST00000638467.1:c.3952A>T	ENSP00000491102.1:p.Lys1318Ter
ENST00000681519.1:c.2833A>T	ENSP00000505267.1:p.Lys945Ter
XM_011509365.1:c.3952A>T	XP_011507667.1:p.Lys1318Ter
XM_011509365.2:c.3952A>T	XP_011507667.1:p.Lys1318Ter
XM_011509366.1:c.3952A>T	XP_011507668.1:p.Lys1318Ter
XM_011509367.1:c.3878+3564A>T	XP_011507669.1:n.3878+3564A>T
XM_011509368.1:c.3370A>T	XP_011507670.1:p.Lys1124Ter
XM_011509369.1:c.2395A>T	XP_011507671.1:p.Lys799Ter
XM_011509369.2:c.2395A>T	XP_011507671.1:p.Lys799Ter
XM_017000851.1:c.3109A>T	XP_016856340.1:p.Lys1037Ter
XM_017000852.1:c.4087A>T	XP_016856341.1:p.Lys1363Ter