Canonical Allele Identifier: CA344032791

Gene: CRB1

Linked Data

• COSMIC: COSM2155513
• MyVariant Identifiers: chr1:g.197390825A>T (hg19) ; chr1:g.197421695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421695A>T , CM000663.2:g.197421695A>T	GRCh38
NC_000001.10:g.197390825A>T , CM000663.1:g.197390825A>T	GRCh37
NC_000001.9:g.195657448A>T	NCBI36
NG_008483.1:g.158418A>T
NG_008483.2:g.225234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1867A>T MANE Select	ENSP00000356370.3:p.Asn623Tyr
ENST00000638467.1:c.1867A>T	ENSP00000491102.1:p.Asn623Tyr
ENST00000681519.1:c.748A>T	ENSP00000505267.1:p.Asn250Tyr
ENST00000367397.1:c.10A>T	ENSP00000356367.1:p.Asn4Tyr
ENST00000367399.6:c.1531A>T	ENSP00000356369.2:p.Asn511Tyr
ENST00000367400.7:c.1867A>T	ENSP00000356370.3:p.Asn623Tyr
ENST00000484075.5:c.1867A>T	ENSP00000433932.1:p.Asn623Tyr
ENST00000535699.5:c.1660A>T	ENSP00000438786.1:p.Asn554Tyr
ENST00000538660.5:c.1867A>T	ENSP00000438091.1:p.Asn623Tyr
NM_001193640.1:c.1531A>T	NP_001180569.1:p.Asn511Tyr
NM_001257965.1:c.1660A>T	NP_001244894.1:p.Asn554Tyr
NM_001257966.1:c.1867A>T	NP_001244895.1:p.Asn623Tyr
NM_201253.2:c.1867A>T	NP_957705.1:p.Asn623Tyr
NR_047563.1:n.1923-55A>T
NR_047564.1:n.2076A>T
XM_011509365.1:c.1867A>T	XP_011507667.1:p.Asn623Tyr
XM_011509366.1:c.1867A>T	XP_011507668.1:p.Asn623Tyr
XM_011509367.1:c.1867A>T	XP_011507669.1:p.Asn623Tyr
XM_011509368.1:c.1285A>T	XP_011507670.1:p.Asn429Tyr
XM_011509369.1:c.310A>T	XP_011507671.1:p.Asn104Tyr
XM_011509365.2:c.1867A>T	XP_011507667.1:p.Asn623Tyr
XM_011509369.2:c.310A>T	XP_011507671.1:p.Asn104Tyr
XM_017000851.1:c.1024A>T	XP_016856340.1:p.Asn342Tyr
XM_017000852.1:c.1867A>T	XP_016856341.1:p.Asn623Tyr
NM_201253.3:c.1867A>T MANE Select	NP_957705.1:p.Asn623Tyr
NM_001193640.2:c.1531A>T	NP_001180569.1:p.Asn511Tyr
NM_001257965.2:c.1660A>T	NP_001244894.1:p.Asn554Tyr
NR_047563.2:n.1875-55A>T
NR_047564.2:n.2028A>T
NM_001257966.2:c.1867A>T	NP_001244895.1:p.Asn623Tyr