Canonical Allele Identifier: CA344035431

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446809A>C (hg19) ; chr1:g.197477679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477679A>C , CM000663.2:g.197477679A>C	GRCh38
NC_000001.10:g.197446809A>C , CM000663.1:g.197446809A>C	GRCh37
NC_000001.9:g.195713432A>C	NCBI36
NG_008483.1:g.214402A>C
NG_008483.2:g.281218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4021A>C MANE Select	ENSP00000356370.3:p.Ile1341Leu
ENST00000367399.6:c.3685A>C	ENSP00000356369.2:p.Ile1229Leu
ENST00000367400.7:c.4021A>C	ENSP00000356370.3:p.Ile1341Leu
ENST00000448952.1:c.255A>C	ENSP00000395407.1:n.255A>C
ENST00000484075.5:c.*132A>C	ENSP00000433932.1:n.*132A>C
ENST00000535699.5:c.3949A>C	ENSP00000438786.1:p.Ile1317Leu
ENST00000538660.5:c.2413A>C	ENSP00000438091.1:p.Ile805Leu
NM_001193640.1:c.3685A>C	NP_001180569.1:p.Ile1229Leu
NM_001257965.1:c.3949A>C	NP_001244894.1:p.Ile1317Leu
NM_001257966.1:c.2413A>C	NP_001244895.1:p.Ile805Leu
NM_201253.2:c.4021A>C	NP_957705.1:p.Ile1341Leu
NR_047563.1:n.4022A>C
NR_047564.1:n.4472A>C
XM_011509366.1:c.*126A>C	XP_011507668.1:n.*126A>C
XM_011509367.1:c.3894A>C	XP_011507669.1:p.Ter1298Cys
XM_011509368.1:c.3439A>C	XP_011507670.1:p.Ile1147Leu
XM_011509369.1:c.2464A>C	XP_011507671.1:p.Ile822Leu
XM_011509369.2:c.2464A>C	XP_011507671.1:p.Ile822Leu
XM_017000851.1:c.3178A>C	XP_016856340.1:p.Ile1060Leu
XM_017000852.1:c.4156A>C	XP_016856341.1:p.Ile1386Leu
NM_201253.3:c.4021A>C MANE Select	NP_957705.1:p.Ile1341Leu
NM_001193640.2:c.3685A>C	NP_001180569.1:p.Ile1229Leu
NM_001257965.2:c.3949A>C	NP_001244894.1:p.Ile1317Leu
NR_047563.2:n.3974A>C
NR_047564.2:n.4424A>C
NM_001257966.2:c.2413A>C	NP_001244895.1:p.Ile805Leu