Canonical Allele Identifier: CA344030233

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390249A>G (hg19) ; chr1:g.197421119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421119A>G , CM000663.2:g.197421119A>G	GRCh38
NC_000001.10:g.197390249A>G , CM000663.1:g.197390249A>G	GRCh37
NC_000001.9:g.195656872A>G	NCBI36
NG_008483.1:g.157842A>G
NG_008483.2:g.224658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1291A>G MANE Select	ENSP00000356370.3:p.Thr431Ala
ENST00000638467.1:c.1291A>G	ENSP00000491102.1:p.Thr431Ala
ENST00000681519.1:c.172A>G	ENSP00000505267.1:p.Thr58Ala
ENST00000367397.1:c.-567A>G	ENSP00000356367.1:n.-567A>G
ENST00000367399.6:c.955A>G	ENSP00000356369.2:p.Thr319Ala
ENST00000367400.7:c.1291A>G	ENSP00000356370.3:p.Thr431Ala
ENST00000476483.1:n.251A>G
ENST00000484075.5:c.1291A>G	ENSP00000433932.1:p.Thr431Ala
ENST00000535699.5:c.1084A>G	ENSP00000438786.1:p.Thr362Ala
ENST00000538660.5:c.1291A>G	ENSP00000438091.1:p.Thr431Ala
NM_001193640.1:c.955A>G	NP_001180569.1:p.Thr319Ala
NM_001257965.1:c.1084A>G	NP_001244894.1:p.Thr362Ala
NM_001257966.1:c.1291A>G	NP_001244895.1:p.Thr431Ala
NM_201253.2:c.1291A>G	NP_957705.1:p.Thr431Ala
NR_047563.1:n.1500A>G
NR_047564.1:n.1500A>G
XM_011509365.1:c.1291A>G	XP_011507667.1:p.Thr431Ala
XM_011509366.1:c.1291A>G	XP_011507668.1:p.Thr431Ala
XM_011509367.1:c.1291A>G	XP_011507669.1:p.Thr431Ala
XM_011509368.1:c.709A>G	XP_011507670.1:p.Thr237Ala
XM_011509369.1:c.-267A>G	XP_011507671.1:n.-267A>G
XM_011509365.2:c.1291A>G	XP_011507667.1:p.Thr431Ala
XM_011509369.2:c.-267A>G	XP_011507671.1:n.-267A>G
XM_017000851.1:c.448A>G	XP_016856340.1:p.Thr150Ala
XM_017000852.1:c.1291A>G	XP_016856341.1:p.Thr431Ala
NM_201253.3:c.1291A>G MANE Select	NP_957705.1:p.Thr431Ala
NM_001193640.2:c.955A>G	NP_001180569.1:p.Thr319Ala
NM_001257965.2:c.1084A>G	NP_001244894.1:p.Thr362Ala
NR_047563.2:n.1452A>G
NR_047564.2:n.1452A>G
NM_001257966.2:c.1291A>G	NP_001244895.1:p.Thr431Ala