Canonical Allele Identifier: CA344037595

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396925A>T (hg19) ; chr1:g.197427795A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427795A>T , CM000663.2:g.197427795A>T	GRCh38
NC_000001.10:g.197396925A>T , CM000663.1:g.197396925A>T	GRCh37
NC_000001.9:g.195663548A>T	NCBI36
NG_008483.1:g.164518A>T
NG_008483.2:g.231334A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2470A>T MANE Select	ENSP00000356370.3:p.Ile824Phe
ENST00000638467.1:c.2470A>T	ENSP00000491102.1:p.Ile824Phe
ENST00000681519.1:c.1351A>T	ENSP00000505267.1:p.Ile451Phe
ENST00000367397.1:c.613A>T	ENSP00000356367.1:p.Ile205Phe
ENST00000367399.6:c.2134A>T	ENSP00000356369.2:p.Ile712Phe
ENST00000367400.7:c.2470A>T	ENSP00000356370.3:p.Ile824Phe
ENST00000480086.2:n.371A>T
ENST00000484075.5:c.2470A>T	ENSP00000433932.1:p.Ile824Phe
ENST00000535699.5:c.2263A>T	ENSP00000438786.1:p.Ile755Phe
ENST00000538660.5:c.2128+5839A>T	ENSP00000438091.1:n.2128+5839A>T
NM_001193640.1:c.2134A>T	NP_001180569.1:p.Ile712Phe
NM_001257965.1:c.2263A>T	NP_001244894.1:p.Ile755Phe
NM_001257966.1:c.2128+5839A>T	NP_001244895.1:n.2128+5839A>T
NM_201253.2:c.2470A>T	NP_957705.1:p.Ile824Phe
NR_047563.1:n.2471A>T
NR_047564.1:n.2679A>T
XM_011509365.1:c.2470A>T	XP_011507667.1:p.Ile824Phe
XM_011509366.1:c.2470A>T	XP_011507668.1:p.Ile824Phe
XM_011509367.1:c.2470A>T	XP_011507669.1:p.Ile824Phe
XM_011509368.1:c.1888A>T	XP_011507670.1:p.Ile630Phe
XM_011509369.1:c.913A>T	XP_011507671.1:p.Ile305Phe
XM_011509365.2:c.2470A>T	XP_011507667.1:p.Ile824Phe
XM_011509369.2:c.913A>T	XP_011507671.1:p.Ile305Phe
XM_017000851.1:c.1627A>T	XP_016856340.1:p.Ile543Phe
XM_017000852.1:c.2470A>T	XP_016856341.1:p.Ile824Phe
NM_201253.3:c.2470A>T MANE Select	NP_957705.1:p.Ile824Phe
NM_001193640.2:c.2134A>T	NP_001180569.1:p.Ile712Phe
NM_001257965.2:c.2263A>T	NP_001244894.1:p.Ile755Phe
NR_047563.2:n.2423A>T
NR_047564.2:n.2631A>T
NM_001257966.2:c.2128+5839A>T	NP_001244895.1:n.2128+5839A>T