Canonical Allele Identifier: CA1218063232

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421690C= , CM000663.2:g.197421690C=	GRCh38
NC_000001.10:g.197390820C= , CM000663.1:g.197390820C=	GRCh37
NC_000001.9:g.195657443C=	NCBI36
NG_008483.1:g.158413C=
NG_008483.2:g.225229C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1862C= MANE Select	ENSP00000356370.3:p.Thr621=
ENST00000638467.1:c.1862C=	ENSP00000491102.1:p.Thr621=
ENST00000681519.1:c.743C=	ENSP00000505267.1:p.Thr248=
ENST00000367397.1:c.5C=	ENSP00000356367.1:p.Thr2=
ENST00000367399.6:c.1526C=	ENSP00000356369.2:p.Thr509=
ENST00000367400.7:c.1862C=	ENSP00000356370.3:p.Thr621=
ENST00000484075.5:c.1862C=	ENSP00000433932.1:p.Thr621=
ENST00000535699.5:c.1655C=	ENSP00000438786.1:p.Thr552=
ENST00000538660.5:c.1862C=	ENSP00000438091.1:p.Thr621=
NM_001193640.1:c.1526C=	NP_001180569.1:p.Thr509=
NM_001257965.1:c.1655C=	NP_001244894.1:p.Thr552=
NM_001257966.1:c.1862C=	NP_001244895.1:p.Thr621=
NM_201253.2:c.1862C=	NP_957705.1:p.Thr621=
NR_047563.1:n.1923-60C=
NR_047564.1:n.2071C=
XM_011509365.1:c.1862C=	XP_011507667.1:p.Thr621=
XM_011509366.1:c.1862C=	XP_011507668.1:p.Thr621=
XM_011509367.1:c.1862C=	XP_011507669.1:p.Thr621=
XM_011509368.1:c.1280C=	XP_011507670.1:p.Thr427=
XM_011509369.1:c.305C=	XP_011507671.1:p.Thr102=
XM_011509365.2:c.1862C=	XP_011507667.1:p.Thr621=
XM_011509369.2:c.305C=	XP_011507671.1:p.Thr102=
XM_017000851.1:c.1019C=	XP_016856340.1:p.Thr340=
XM_017000852.1:c.1862C=	XP_016856341.1:p.Thr621=
NM_201253.3:c.1862C= MANE Select	NP_957705.1:p.Thr621=
NM_001193640.2:c.1526C=	NP_001180569.1:p.Thr509=
NM_001257965.2:c.1655C=	NP_001244894.1:p.Thr552=
NR_047563.2:n.1875-60C=
NR_047564.2:n.2023C=
NM_001257966.2:c.1862C=	NP_001244895.1:p.Thr621=