Canonical Allele Identifier: CA422672603

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403996T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434866T>C , CM000663.2:g.197434866T>C	GRCh38
NC_000001.10:g.197403996T>C , CM000663.1:g.197403996T>C	GRCh37
NC_000001.9:g.195670619T>C	NCBI36
NG_008483.1:g.171589T>C
NG_008483.2:g.238405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3003T>C MANE Select	ENSP00000356370.3:p.Ile1001=
ENST00000638467.1:c.3003T>C	ENSP00000491102.1:p.Ile1001=
ENST00000681519.1:c.1884T>C	ENSP00000505267.1:p.Ile628=
ENST00000367397.1:c.1146T>C	ENSP00000356367.1:p.Ile382=
ENST00000367399.6:c.2667T>C	ENSP00000356369.2:p.Ile889=
ENST00000367400.7:c.3003T>C	ENSP00000356370.3:p.Ile1001=
ENST00000484075.5:c.3003T>C	ENSP00000433932.1:p.Ile1001=
ENST00000535699.5:c.2931T>C	ENSP00000438786.1:p.Ile977=
ENST00000538660.5:c.2129-734T>C	ENSP00000438091.1:n.2129-734T>C
NM_001193640.1:c.2667T>C	NP_001180569.1:p.Ile889=
NM_001257965.1:c.2931T>C	NP_001244894.1:p.Ile977=
NM_001257966.1:c.2129-734T>C	NP_001244895.1:n.2129-734T>C
NM_201253.2:c.3003T>C	NP_957705.1:p.Ile1001=
NR_047563.1:n.3004T>C
NR_047564.1:n.3212T>C
XM_011509365.1:c.3003T>C	XP_011507667.1:p.Ile1001=
XM_011509366.1:c.3003T>C	XP_011507668.1:p.Ile1001=
XM_011509367.1:c.3003T>C	XP_011507669.1:p.Ile1001=
XM_011509368.1:c.2421T>C	XP_011507670.1:p.Ile807=
XM_011509369.1:c.1446T>C	XP_011507671.1:p.Ile482=
XM_011509365.2:c.3003T>C	XP_011507667.1:p.Ile1001=
XM_011509369.2:c.1446T>C	XP_011507671.1:p.Ile482=
XM_017000851.1:c.2160T>C	XP_016856340.1:p.Ile720=
XM_017000852.1:c.3138T>C	XP_016856341.1:p.Ile1046=
NM_201253.3:c.3003T>C MANE Select	NP_957705.1:p.Ile1001=
NM_001193640.2:c.2667T>C	NP_001180569.1:p.Ile889=
NM_001257965.2:c.2931T>C	NP_001244894.1:p.Ile977=
NR_047563.2:n.2956T>C
NR_047564.2:n.3164T>C
NM_001257966.2:c.2129-734T>C	NP_001244895.1:n.2129-734T>C