Canonical Allele Identifier: CA1312240

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434737C>T , CM000663.2:g.197434737C>T	GRCh38
NC_000001.10:g.197403867C>T , CM000663.1:g.197403867C>T	GRCh37
NC_000001.9:g.195670490C>T	NCBI36
NG_008483.1:g.171460C>T
NG_008483.2:g.238276C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2874C>T MANE Select	NP_957705.1:p.Ser958=
ENST00000367400.8:c.2874C>T MANE Select	ENSP00000356370.3:p.Ser958=
NM_001193640.1:c.2538C>T	NP_001180569.1:p.Ser846=
NM_001193640.2:c.2538C>T	NP_001180569.1:p.Ser846=
NM_001257965.1:c.2802C>T	NP_001244894.1:p.Ser934=
NM_001257965.2:c.2802C>T	NP_001244894.1:p.Ser934=
NM_001257966.1:c.2129-863C>T	NP_001244895.1:n.2129-863C>T
NM_001257966.2:c.2129-863C>T	NP_001244895.1:n.2129-863C>T
NM_201253.2:c.2874C>T	NP_957705.1:p.Ser958=
NR_047563.1:n.2875C>T
NR_047563.2:n.2827C>T
NR_047564.1:n.3083C>T
NR_047564.2:n.3035C>T
ENST00000367397.1:c.1017C>T	ENSP00000356367.1:p.Ser339=
ENST00000367399.6:c.2538C>T	ENSP00000356369.2:p.Ser846=
ENST00000367400.7:c.2874C>T	ENSP00000356370.3:p.Ser958=
ENST00000484075.5:c.2874C>T	ENSP00000433932.1:p.Ser958=
ENST00000535699.5:c.2802C>T	ENSP00000438786.1:p.Ser934=
ENST00000538660.5:c.2129-863C>T	ENSP00000438091.1:n.2129-863C>T
ENST00000638467.1:c.2874C>T	ENSP00000491102.1:p.Ser958=
ENST00000681519.1:c.1755C>T	ENSP00000505267.1:p.Ser585=
XM_011509365.1:c.2874C>T	XP_011507667.1:p.Ser958=
XM_011509365.2:c.2874C>T	XP_011507667.1:p.Ser958=
XM_011509366.1:c.2874C>T	XP_011507668.1:p.Ser958=
XM_011509367.1:c.2874C>T	XP_011507669.1:p.Ser958=
XM_011509368.1:c.2292C>T	XP_011507670.1:p.Ser764=
XM_011509369.1:c.1317C>T	XP_011507671.1:p.Ser439=
XM_011509369.2:c.1317C>T	XP_011507671.1:p.Ser439=
XM_017000851.1:c.2031C>T	XP_016856340.1:p.Ser677=
XM_017000852.1:c.3009C>T	XP_016856341.1:p.Ser1003=