Canonical Allele Identifier: CA344083247

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197344346C>T , CM000663.2:g.197344346C>T	GRCh38
NC_000001.10:g.197313476C>T , CM000663.1:g.197313476C>T	GRCh37
NC_000001.9:g.195580099C>T	NCBI36
NG_008483.1:g.81069C>T
NG_008483.2:g.147885C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.718C>T MANE Select	NP_957705.1:p.Gln240Ter
ENST00000367400.8:c.718C>T MANE Select	ENSP00000356370.3:p.Gln240Ter
NM_001193640.1:c.653-12485C>T	NP_001180569.1:n.653-12485C>T
NM_001193640.2:c.653-12485C>T	NP_001180569.1:n.653-12485C>T
NM_001257965.1:c.511C>T	NP_001244894.1:p.Gln171Ter
NM_001257965.2:c.511C>T	NP_001244894.1:p.Gln171Ter
NM_001257966.1:c.718C>T	NP_001244895.1:p.Gln240Ter
NM_001257966.2:c.718C>T	NP_001244895.1:p.Gln240Ter
NM_201253.2:c.718C>T	NP_957705.1:p.Gln240Ter
NR_047563.1:n.927C>T
NR_047563.2:n.879C>T
NR_047564.1:n.927C>T
NR_047564.2:n.879C>T
ENST00000367399.6:c.653-12485C>T	ENSP00000356369.2:n.653-12485C>T
ENST00000367400.7:c.718C>T	ENSP00000356370.3:p.Gln240Ter
ENST00000475659.1:n.855C>T
ENST00000484075.5:c.718C>T	ENSP00000433932.1:p.Gln240Ter
ENST00000535699.5:c.511C>T	ENSP00000438786.1:p.Gln171Ter
ENST00000538660.5:c.718C>T	ENSP00000438091.1:p.Gln240Ter
ENST00000638467.1:c.718C>T	ENSP00000491102.1:p.Gln240Ter
XM_011509365.1:c.718C>T	XP_011507667.1:p.Gln240Ter
XM_011509365.2:c.718C>T	XP_011507667.1:p.Gln240Ter
XM_011509366.1:c.718C>T	XP_011507668.1:p.Gln240Ter
XM_011509367.1:c.718C>T	XP_011507669.1:p.Gln240Ter
XM_011509368.1:c.136C>T	XP_011507670.1:p.Gln46Ter
XM_017000851.1:c.15C>T	XP_016856340.1:p.Val5=
XM_017000852.1:c.718C>T	XP_016856341.1:p.Gln240Ter