Canonical Allele Identifier: CA344041314

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429590C>T , CM000663.2:g.197429590C>T	GRCh38
NC_000001.10:g.197398720C>T , CM000663.1:g.197398720C>T	GRCh37
NC_000001.9:g.195665343C>T	NCBI36
NG_008483.1:g.166313C>T
NG_008483.2:g.233129C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2818C>T MANE Select	NP_957705.1:p.Gln940Ter
ENST00000367400.8:c.2818C>T MANE Select	ENSP00000356370.3:p.Gln940Ter
NM_001193640.1:c.2482C>T	NP_001180569.1:p.Gln828Ter
NM_001193640.2:c.2482C>T	NP_001180569.1:p.Gln828Ter
NM_001257965.1:c.2746C>T	NP_001244894.1:p.Gln916Ter
NM_001257965.2:c.2746C>T	NP_001244894.1:p.Gln916Ter
NM_001257966.1:c.2129-6010C>T	NP_001244895.1:n.2129-6010C>T
NM_001257966.2:c.2129-6010C>T	NP_001244895.1:n.2129-6010C>T
NM_201253.2:c.2818C>T	NP_957705.1:p.Gln940Ter
NR_047563.1:n.2819C>T
NR_047563.2:n.2771C>T
NR_047564.1:n.3027C>T
NR_047564.2:n.2979C>T
ENST00000367397.1:c.961C>T	ENSP00000356367.1:p.Gln321Ter
ENST00000367399.6:c.2482C>T	ENSP00000356369.2:p.Gln828Ter
ENST00000367400.7:c.2818C>T	ENSP00000356370.3:p.Gln940Ter
ENST00000484075.5:c.2818C>T	ENSP00000433932.1:p.Gln940Ter
ENST00000535699.5:c.2746C>T	ENSP00000438786.1:p.Gln916Ter
ENST00000538660.5:c.2129-6010C>T	ENSP00000438091.1:n.2129-6010C>T
ENST00000638467.1:c.2818C>T	ENSP00000491102.1:p.Gln940Ter
ENST00000681519.1:c.1699C>T	ENSP00000505267.1:p.Gln567Ter
XM_011509365.1:c.2818C>T	XP_011507667.1:p.Gln940Ter
XM_011509365.2:c.2818C>T	XP_011507667.1:p.Gln940Ter
XM_011509366.1:c.2818C>T	XP_011507668.1:p.Gln940Ter
XM_011509367.1:c.2818C>T	XP_011507669.1:p.Gln940Ter
XM_011509368.1:c.2236C>T	XP_011507670.1:p.Gln746Ter
XM_011509369.1:c.1261C>T	XP_011507671.1:p.Gln421Ter
XM_011509369.2:c.1261C>T	XP_011507671.1:p.Gln421Ter
XM_017000851.1:c.1975C>T	XP_016856340.1:p.Gln659Ter
XM_017000852.1:c.2953C>T	XP_016856341.1:p.Gln985Ter