Canonical Allele Identifier: CA344048009

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435314G>T , CM000663.2:g.197435314G>T	GRCh38
NC_000001.10:g.197404444G>T , CM000663.1:g.197404444G>T	GRCh37
NC_000001.9:g.195671067G>T	NCBI36
NG_008483.1:g.172037G>T
NG_008483.2:g.238853G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3451G>T MANE Select	NP_957705.1:p.Gly1151Ter
ENST00000367400.8:c.3451G>T MANE Select	ENSP00000356370.3:p.Gly1151Ter
NM_001193640.1:c.3115G>T	NP_001180569.1:p.Gly1039Ter
NM_001193640.2:c.3115G>T	NP_001180569.1:p.Gly1039Ter
NM_001257965.1:c.3379G>T	NP_001244894.1:p.Gly1127Ter
NM_001257965.2:c.3379G>T	NP_001244894.1:p.Gly1127Ter
NM_001257966.1:c.2129-286G>T	NP_001244895.1:n.2129-286G>T
NM_001257966.2:c.2129-286G>T	NP_001244895.1:n.2129-286G>T
NM_201253.2:c.3451G>T	NP_957705.1:p.Gly1151Ter
NR_047563.1:n.3452G>T
NR_047563.2:n.3404G>T
NR_047564.1:n.3660G>T
NR_047564.2:n.3612G>T
ENST00000367397.1:c.1594G>T	ENSP00000356367.1:p.Gly532Ter
ENST00000367399.6:c.3115G>T	ENSP00000356369.2:p.Gly1039Ter
ENST00000367400.7:c.3451G>T	ENSP00000356370.3:p.Gly1151Ter
ENST00000484075.5:c.3451G>T	ENSP00000433932.1:p.Gly1151Ter
ENST00000535699.5:c.3379G>T	ENSP00000438786.1:p.Gly1127Ter
ENST00000538660.5:c.2129-286G>T	ENSP00000438091.1:n.2129-286G>T
ENST00000638467.1:c.3451G>T	ENSP00000491102.1:p.Gly1151Ter
ENST00000681519.1:c.2332G>T	ENSP00000505267.1:p.Gly778Ter
XM_011509365.1:c.3451G>T	XP_011507667.1:p.Gly1151Ter
XM_011509365.2:c.3451G>T	XP_011507667.1:p.Gly1151Ter
XM_011509366.1:c.3451G>T	XP_011507668.1:p.Gly1151Ter
XM_011509367.1:c.3451G>T	XP_011507669.1:p.Gly1151Ter
XM_011509368.1:c.2869G>T	XP_011507670.1:p.Gly957Ter
XM_011509369.1:c.1894G>T	XP_011507671.1:p.Gly632Ter
XM_011509369.2:c.1894G>T	XP_011507671.1:p.Gly632Ter
XM_017000851.1:c.2608G>T	XP_016856340.1:p.Gly870Ter
XM_017000852.1:c.3586G>T	XP_016856341.1:p.Gly1196Ter