Canonical Allele Identifier: CA344032708

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390786A>T (hg19) ; chr1:g.197421656A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421656A>T , CM000663.2:g.197421656A>T	GRCh38
NC_000001.10:g.197390786A>T , CM000663.1:g.197390786A>T	GRCh37
NC_000001.9:g.195657409A>T	NCBI36
NG_008483.1:g.158379A>T
NG_008483.2:g.225195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1828A>T MANE Select	ENSP00000356370.3:p.Asn610Tyr
ENST00000638467.1:c.1828A>T	ENSP00000491102.1:p.Asn610Tyr
ENST00000681519.1:c.709A>T	ENSP00000505267.1:p.Asn237Tyr
ENST00000367397.1:c.-30A>T	ENSP00000356367.1:n.-30A>T
ENST00000367399.6:c.1492A>T	ENSP00000356369.2:p.Asn498Tyr
ENST00000367400.7:c.1828A>T	ENSP00000356370.3:p.Asn610Tyr
ENST00000484075.5:c.1828A>T	ENSP00000433932.1:p.Asn610Tyr
ENST00000535699.5:c.1621A>T	ENSP00000438786.1:p.Asn541Tyr
ENST00000538660.5:c.1828A>T	ENSP00000438091.1:p.Asn610Tyr
NM_001193640.1:c.1492A>T	NP_001180569.1:p.Asn498Tyr
NM_001257965.1:c.1621A>T	NP_001244894.1:p.Asn541Tyr
NM_001257966.1:c.1828A>T	NP_001244895.1:p.Asn610Tyr
NM_201253.2:c.1828A>T	NP_957705.1:p.Asn610Tyr
NR_047563.1:n.1923-94A>T
NR_047564.1:n.2037A>T
XM_011509365.1:c.1828A>T	XP_011507667.1:p.Asn610Tyr
XM_011509366.1:c.1828A>T	XP_011507668.1:p.Asn610Tyr
XM_011509367.1:c.1828A>T	XP_011507669.1:p.Asn610Tyr
XM_011509368.1:c.1246A>T	XP_011507670.1:p.Asn416Tyr
XM_011509369.1:c.271A>T	XP_011507671.1:p.Asn91Tyr
XM_011509365.2:c.1828A>T	XP_011507667.1:p.Asn610Tyr
XM_011509369.2:c.271A>T	XP_011507671.1:p.Asn91Tyr
XM_017000851.1:c.985A>T	XP_016856340.1:p.Asn329Tyr
XM_017000852.1:c.1828A>T	XP_016856341.1:p.Asn610Tyr
NM_201253.3:c.1828A>T MANE Select	NP_957705.1:p.Asn610Tyr
NM_001193640.2:c.1492A>T	NP_001180569.1:p.Asn498Tyr
NM_001257965.2:c.1621A>T	NP_001244894.1:p.Asn541Tyr
NR_047563.2:n.1875-94A>T
NR_047564.2:n.1989A>T
NM_001257966.2:c.1828A>T	NP_001244895.1:p.Asn610Tyr