Canonical Allele Identifier: CA344040860

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197398660A>G (hg19) ; chr1:g.197429530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429530A>G , CM000663.2:g.197429530A>G	GRCh38
NC_000001.10:g.197398660A>G , CM000663.1:g.197398660A>G	GRCh37
NC_000001.9:g.195665283A>G	NCBI36
NG_008483.1:g.166253A>G
NG_008483.2:g.233069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2758A>G MANE Select	ENSP00000356370.3:p.Lys920Glu
ENST00000638467.1:c.2758A>G	ENSP00000491102.1:p.Lys920Glu
ENST00000681519.1:c.1639A>G	ENSP00000505267.1:p.Lys547Glu
ENST00000367397.1:c.901A>G	ENSP00000356367.1:p.Lys301Glu
ENST00000367399.6:c.2422A>G	ENSP00000356369.2:p.Lys808Glu
ENST00000367400.7:c.2758A>G	ENSP00000356370.3:p.Lys920Glu
ENST00000484075.5:c.2758A>G	ENSP00000433932.1:p.Lys920Glu
ENST00000535699.5:c.2686A>G	ENSP00000438786.1:p.Lys896Glu
ENST00000538660.5:c.2129-6070A>G	ENSP00000438091.1:n.2129-6070A>G
NM_001193640.1:c.2422A>G	NP_001180569.1:p.Lys808Glu
NM_001257965.1:c.2686A>G	NP_001244894.1:p.Lys896Glu
NM_001257966.1:c.2129-6070A>G	NP_001244895.1:n.2129-6070A>G
NM_201253.2:c.2758A>G	NP_957705.1:p.Lys920Glu
NR_047563.1:n.2759A>G
NR_047564.1:n.2967A>G
XM_011509365.1:c.2758A>G	XP_011507667.1:p.Lys920Glu
XM_011509366.1:c.2758A>G	XP_011507668.1:p.Lys920Glu
XM_011509367.1:c.2758A>G	XP_011507669.1:p.Lys920Glu
XM_011509368.1:c.2176A>G	XP_011507670.1:p.Lys726Glu
XM_011509369.1:c.1201A>G	XP_011507671.1:p.Lys401Glu
XM_011509365.2:c.2758A>G	XP_011507667.1:p.Lys920Glu
XM_011509369.2:c.1201A>G	XP_011507671.1:p.Lys401Glu
XM_017000851.1:c.1915A>G	XP_016856340.1:p.Lys639Glu
XM_017000852.1:c.2893A>G	XP_016856341.1:p.Lys965Glu
NM_201253.3:c.2758A>G MANE Select	NP_957705.1:p.Lys920Glu
NM_001193640.2:c.2422A>G	NP_001180569.1:p.Lys808Glu
NM_001257965.2:c.2686A>G	NP_001244894.1:p.Lys896Glu
NR_047563.2:n.2711A>G
NR_047564.2:n.2919A>G
NM_001257966.2:c.2129-6070A>G	NP_001244895.1:n.2129-6070A>G