Canonical Allele Identifier: CA422809200

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404329T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435199T>C , CM000663.2:g.197435199T>C	GRCh38
NC_000001.10:g.197404329T>C , CM000663.1:g.197404329T>C	GRCh37
NC_000001.9:g.195670952T>C	NCBI36
NG_008483.1:g.171922T>C
NG_008483.2:g.238738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3336T>C MANE Select	ENSP00000356370.3:p.Asn1112=
ENST00000638467.1:c.3336T>C	ENSP00000491102.1:p.Asn1112=
ENST00000681519.1:c.2217T>C	ENSP00000505267.1:p.Asn739=
ENST00000367397.1:c.1479T>C	ENSP00000356367.1:p.Asn493=
ENST00000367399.6:c.3000T>C	ENSP00000356369.2:p.Asn1000=
ENST00000367400.7:c.3336T>C	ENSP00000356370.3:p.Asn1112=
ENST00000484075.5:c.3336T>C	ENSP00000433932.1:p.Asn1112=
ENST00000535699.5:c.3264T>C	ENSP00000438786.1:p.Asn1088=
ENST00000538660.5:c.2129-401T>C	ENSP00000438091.1:n.2129-401T>C
NM_001193640.1:c.3000T>C	NP_001180569.1:p.Asn1000=
NM_001257965.1:c.3264T>C	NP_001244894.1:p.Asn1088=
NM_001257966.1:c.2129-401T>C	NP_001244895.1:n.2129-401T>C
NM_201253.2:c.3336T>C	NP_957705.1:p.Asn1112=
NR_047563.1:n.3337T>C
NR_047564.1:n.3545T>C
XM_011509365.1:c.3336T>C	XP_011507667.1:p.Asn1112=
XM_011509366.1:c.3336T>C	XP_011507668.1:p.Asn1112=
XM_011509367.1:c.3336T>C	XP_011507669.1:p.Asn1112=
XM_011509368.1:c.2754T>C	XP_011507670.1:p.Asn918=
XM_011509369.1:c.1779T>C	XP_011507671.1:p.Asn593=
XM_011509365.2:c.3336T>C	XP_011507667.1:p.Asn1112=
XM_011509369.2:c.1779T>C	XP_011507671.1:p.Asn593=
XM_017000851.1:c.2493T>C	XP_016856340.1:p.Asn831=
XM_017000852.1:c.3471T>C	XP_016856341.1:p.Asn1157=
NM_201253.3:c.3336T>C MANE Select	NP_957705.1:p.Asn1112=
NM_001193640.2:c.3000T>C	NP_001180569.1:p.Asn1000=
NM_001257965.2:c.3264T>C	NP_001244894.1:p.Asn1088=
NR_047563.2:n.3289T>C
NR_047564.2:n.3497T>C
NM_001257966.2:c.2129-401T>C	NP_001244895.1:n.2129-401T>C