Canonical Allele Identifier: CA344032711

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390788C>A (hg19) ; chr1:g.197421658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421658C>A , CM000663.2:g.197421658C>A	GRCh38
NC_000001.10:g.197390788C>A , CM000663.1:g.197390788C>A	GRCh37
NC_000001.9:g.195657411C>A	NCBI36
NG_008483.1:g.158381C>A
NG_008483.2:g.225197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1830C>A MANE Select	ENSP00000356370.3:p.Asn610Lys
ENST00000638467.1:c.1830C>A	ENSP00000491102.1:p.Asn610Lys
ENST00000681519.1:c.711C>A	ENSP00000505267.1:p.Asn237Lys
ENST00000367397.1:c.-28C>A	ENSP00000356367.1:n.-28C>A
ENST00000367399.6:c.1494C>A	ENSP00000356369.2:p.Asn498Lys
ENST00000367400.7:c.1830C>A	ENSP00000356370.3:p.Asn610Lys
ENST00000484075.5:c.1830C>A	ENSP00000433932.1:p.Asn610Lys
ENST00000535699.5:c.1623C>A	ENSP00000438786.1:p.Asn541Lys
ENST00000538660.5:c.1830C>A	ENSP00000438091.1:p.Asn610Lys
NM_001193640.1:c.1494C>A	NP_001180569.1:p.Asn498Lys
NM_001257965.1:c.1623C>A	NP_001244894.1:p.Asn541Lys
NM_001257966.1:c.1830C>A	NP_001244895.1:p.Asn610Lys
NM_201253.2:c.1830C>A	NP_957705.1:p.Asn610Lys
NR_047563.1:n.1923-92C>A
NR_047564.1:n.2039C>A
XM_011509365.1:c.1830C>A	XP_011507667.1:p.Asn610Lys
XM_011509366.1:c.1830C>A	XP_011507668.1:p.Asn610Lys
XM_011509367.1:c.1830C>A	XP_011507669.1:p.Asn610Lys
XM_011509368.1:c.1248C>A	XP_011507670.1:p.Asn416Lys
XM_011509369.1:c.273C>A	XP_011507671.1:p.Asn91Lys
XM_011509365.2:c.1830C>A	XP_011507667.1:p.Asn610Lys
XM_011509369.2:c.273C>A	XP_011507671.1:p.Asn91Lys
XM_017000851.1:c.987C>A	XP_016856340.1:p.Asn329Lys
XM_017000852.1:c.1830C>A	XP_016856341.1:p.Asn610Lys
NM_201253.3:c.1830C>A MANE Select	NP_957705.1:p.Asn610Lys
NM_001193640.2:c.1494C>A	NP_001180569.1:p.Asn498Lys
NM_001257965.2:c.1623C>A	NP_001244894.1:p.Asn541Lys
NR_047563.2:n.1875-92C>A
NR_047564.2:n.1991C>A
NM_001257966.2:c.1830C>A	NP_001244895.1:p.Asn610Lys