Canonical Allele Identifier: CA344045122

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404055T>A (hg19) ; chr1:g.197434925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434925T>A , CM000663.2:g.197434925T>A	GRCh38
NC_000001.10:g.197404055T>A , CM000663.1:g.197404055T>A	GRCh37
NC_000001.9:g.195670678T>A	NCBI36
NG_008483.1:g.171648T>A
NG_008483.2:g.238464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3062T>A MANE Select	ENSP00000356370.3:p.Leu1021Gln
ENST00000638467.1:c.3062T>A	ENSP00000491102.1:p.Leu1021Gln
ENST00000681519.1:c.1943T>A	ENSP00000505267.1:p.Leu648Gln
ENST00000367397.1:c.1205T>A	ENSP00000356367.1:p.Leu402Gln
ENST00000367399.6:c.2726T>A	ENSP00000356369.2:p.Leu909Gln
ENST00000367400.7:c.3062T>A	ENSP00000356370.3:p.Leu1021Gln
ENST00000484075.5:c.3062T>A	ENSP00000433932.1:p.Leu1021Gln
ENST00000535699.5:c.2990T>A	ENSP00000438786.1:p.Leu997Gln
ENST00000538660.5:c.2129-675T>A	ENSP00000438091.1:n.2129-675T>A
NM_001193640.1:c.2726T>A	NP_001180569.1:p.Leu909Gln
NM_001257965.1:c.2990T>A	NP_001244894.1:p.Leu997Gln
NM_001257966.1:c.2129-675T>A	NP_001244895.1:n.2129-675T>A
NM_201253.2:c.3062T>A	NP_957705.1:p.Leu1021Gln
NR_047563.1:n.3063T>A
NR_047564.1:n.3271T>A
XM_011509365.1:c.3062T>A	XP_011507667.1:p.Leu1021Gln
XM_011509366.1:c.3062T>A	XP_011507668.1:p.Leu1021Gln
XM_011509367.1:c.3062T>A	XP_011507669.1:p.Leu1021Gln
XM_011509368.1:c.2480T>A	XP_011507670.1:p.Leu827Gln
XM_011509369.1:c.1505T>A	XP_011507671.1:p.Leu502Gln
XM_011509365.2:c.3062T>A	XP_011507667.1:p.Leu1021Gln
XM_011509369.2:c.1505T>A	XP_011507671.1:p.Leu502Gln
XM_017000851.1:c.2219T>A	XP_016856340.1:p.Leu740Gln
XM_017000852.1:c.3197T>A	XP_016856341.1:p.Leu1066Gln
NM_201253.3:c.3062T>A MANE Select	NP_957705.1:p.Leu1021Gln
NM_001193640.2:c.2726T>A	NP_001180569.1:p.Leu909Gln
NM_001257965.2:c.2990T>A	NP_001244894.1:p.Leu997Gln
NR_047563.2:n.3015T>A
NR_047564.2:n.3223T>A
NM_001257966.2:c.2129-675T>A	NP_001244895.1:n.2129-675T>A