Canonical Allele Identifier: CA344038396

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397039C>A (hg19) ; chr1:g.197427909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427909C>A , CM000663.2:g.197427909C>A	GRCh38
NC_000001.10:g.197397039C>A , CM000663.1:g.197397039C>A	GRCh37
NC_000001.9:g.195663662C>A	NCBI36
NG_008483.1:g.164632C>A
NG_008483.2:g.231448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2584C>A MANE Select	ENSP00000356370.3:p.Leu862Met
ENST00000638467.1:c.2584C>A	ENSP00000491102.1:p.Leu862Met
ENST00000681519.1:c.1465C>A	ENSP00000505267.1:p.Leu489Met
ENST00000367397.1:c.727C>A	ENSP00000356367.1:p.Leu243Met
ENST00000367399.6:c.2248C>A	ENSP00000356369.2:p.Leu750Met
ENST00000367400.7:c.2584C>A	ENSP00000356370.3:p.Leu862Met
ENST00000484075.5:c.2584C>A	ENSP00000433932.1:p.Leu862Met
ENST00000535699.5:c.2377C>A	ENSP00000438786.1:p.Leu793Met
ENST00000538660.5:c.2128+5953C>A	ENSP00000438091.1:n.2128+5953C>A
NM_001193640.1:c.2248C>A	NP_001180569.1:p.Leu750Met
NM_001257965.1:c.2377C>A	NP_001244894.1:p.Leu793Met
NM_001257966.1:c.2128+5953C>A	NP_001244895.1:n.2128+5953C>A
NM_201253.2:c.2584C>A	NP_957705.1:p.Leu862Met
NR_047563.1:n.2585C>A
NR_047564.1:n.2793C>A
XM_011509365.1:c.2584C>A	XP_011507667.1:p.Leu862Met
XM_011509366.1:c.2584C>A	XP_011507668.1:p.Leu862Met
XM_011509367.1:c.2584C>A	XP_011507669.1:p.Leu862Met
XM_011509368.1:c.2002C>A	XP_011507670.1:p.Leu668Met
XM_011509369.1:c.1027C>A	XP_011507671.1:p.Leu343Met
XM_011509365.2:c.2584C>A	XP_011507667.1:p.Leu862Met
XM_011509369.2:c.1027C>A	XP_011507671.1:p.Leu343Met
XM_017000851.1:c.1741C>A	XP_016856340.1:p.Leu581Met
XM_017000852.1:c.2584C>A	XP_016856341.1:p.Leu862Met
NM_201253.3:c.2584C>A MANE Select	NP_957705.1:p.Leu862Met
NM_001193640.2:c.2248C>A	NP_001180569.1:p.Leu750Met
NM_001257965.2:c.2377C>A	NP_001244894.1:p.Leu793Met
NR_047563.2:n.2537C>A
NR_047564.2:n.2745C>A
NM_001257966.2:c.2128+5953C>A	NP_001244895.1:n.2128+5953C>A