Canonical Allele Identifier: CA344035309

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446678T>C (hg19) ; chr1:g.197477548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477548T>C , CM000663.2:g.197477548T>C	GRCh38
NC_000001.10:g.197446678T>C , CM000663.1:g.197446678T>C	GRCh37
NC_000001.9:g.195713301T>C	NCBI36
NG_008483.1:g.214271T>C
NG_008483.2:g.281087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-116T>C MANE Select	ENSP00000356370.3:n.4006-116T>C
ENST00000367399.6:c.3670-116T>C	ENSP00000356369.2:n.3670-116T>C
ENST00000367400.7:c.4006-116T>C	ENSP00000356370.3:n.4006-116T>C
ENST00000448952.1:c.124T>C	ENSP00000395407.1:p.Tyr42His
ENST00000484075.5:c.*117-116T>C	ENSP00000433932.1:n.*117-116T>C
ENST00000535699.5:c.3934-116T>C	ENSP00000438786.1:n.3934-116T>C
ENST00000538660.5:c.2398-116T>C	ENSP00000438091.1:n.2398-116T>C
NM_001193640.1:c.3670-116T>C	NP_001180569.1:n.3670-116T>C
NM_001257965.1:c.3934-116T>C	NP_001244894.1:n.3934-116T>C
NM_001257966.1:c.2398-116T>C	NP_001244895.1:n.2398-116T>C
NM_201253.2:c.4006-116T>C	NP_957705.1:n.4006-116T>C
NR_047563.1:n.4007-116T>C
NR_047564.1:n.4457-116T>C
XM_011509366.1:c.4006T>C	XP_011507668.1:p.Tyr1336His
XM_011509367.1:c.3879-116T>C	XP_011507669.1:n.3879-116T>C
XM_011509368.1:c.3424-116T>C	XP_011507670.1:n.3424-116T>C
XM_011509369.1:c.2449-116T>C	XP_011507671.1:n.2449-116T>C
XM_011509369.2:c.2449-116T>C	XP_011507671.1:n.2449-116T>C
XM_017000851.1:c.3163-116T>C	XP_016856340.1:n.3163-116T>C
XM_017000852.1:c.4141-116T>C	XP_016856341.1:n.4141-116T>C
NM_201253.3:c.4006-116T>C MANE Select	NP_957705.1:n.4006-116T>C
NM_001193640.2:c.3670-116T>C	NP_001180569.1:n.3670-116T>C
NM_001257965.2:c.3934-116T>C	NP_001244894.1:n.3934-116T>C
NR_047563.2:n.3959-116T>C
NR_047564.2:n.4409-116T>C
NM_001257966.2:c.2398-116T>C	NP_001244895.1:n.2398-116T>C