Canonical Allele Identifier: CA344035454

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446819T>G (hg19) ; chr1:g.197477689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477689T>G , CM000663.2:g.197477689T>G	GRCh38
NC_000001.10:g.197446819T>G , CM000663.1:g.197446819T>G	GRCh37
NC_000001.9:g.195713442T>G	NCBI36
NG_008483.1:g.214412T>G
NG_008483.2:g.281228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4031T>G MANE Select	ENSP00000356370.3:p.Ile1344Ser
ENST00000367399.6:c.3695T>G	ENSP00000356369.2:p.Ile1232Ser
ENST00000367400.7:c.4031T>G	ENSP00000356370.3:p.Ile1344Ser
ENST00000448952.1:c.265T>G	ENSP00000395407.1:n.265T>G
ENST00000484075.5:c.*142T>G	ENSP00000433932.1:n.*142T>G
ENST00000535699.5:c.3959T>G	ENSP00000438786.1:p.Ile1320Ser
ENST00000538660.5:c.2423T>G	ENSP00000438091.1:p.Ile808Ser
NM_001193640.1:c.3695T>G	NP_001180569.1:p.Ile1232Ser
NM_001257965.1:c.3959T>G	NP_001244894.1:p.Ile1320Ser
NM_001257966.1:c.2423T>G	NP_001244895.1:p.Ile808Ser
NM_201253.2:c.4031T>G	NP_957705.1:p.Ile1344Ser
NR_047563.1:n.4032T>G
NR_047564.1:n.4482T>G
XM_011509366.1:c.*136T>G	XP_011507668.1:n.*136T>G
XM_011509367.1:c.*10T>G	XP_011507669.1:n.*10T>G
XM_011509368.1:c.3449T>G	XP_011507670.1:p.Ile1150Ser
XM_011509369.1:c.2474T>G	XP_011507671.1:p.Ile825Ser
XM_011509369.2:c.2474T>G	XP_011507671.1:p.Ile825Ser
XM_017000851.1:c.3188T>G	XP_016856340.1:p.Ile1063Ser
XM_017000852.1:c.4166T>G	XP_016856341.1:p.Ile1389Ser
NM_201253.3:c.4031T>G MANE Select	NP_957705.1:p.Ile1344Ser
NM_001193640.2:c.3695T>G	NP_001180569.1:p.Ile1232Ser
NM_001257965.2:c.3959T>G	NP_001244894.1:p.Ile1320Ser
NR_047563.2:n.3984T>G
NR_047564.2:n.4434T>G
NM_001257966.2:c.2423T>G	NP_001244895.1:p.Ile808Ser