Canonical Allele Identifier: CA344032632

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390754T>A (hg19) ; chr1:g.197421624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421624T>A , CM000663.2:g.197421624T>A	GRCh38
NC_000001.10:g.197390754T>A , CM000663.1:g.197390754T>A	GRCh37
NC_000001.9:g.195657377T>A	NCBI36
NG_008483.1:g.158347T>A
NG_008483.2:g.225163T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1796T>A MANE Select	ENSP00000356370.3:p.Leu599His
ENST00000638467.1:c.1796T>A	ENSP00000491102.1:p.Leu599His
ENST00000681519.1:c.677T>A	ENSP00000505267.1:p.Leu226His
ENST00000367397.1:c.-62T>A	ENSP00000356367.1:n.-62T>A
ENST00000367399.6:c.1460T>A	ENSP00000356369.2:p.Leu487His
ENST00000367400.7:c.1796T>A	ENSP00000356370.3:p.Leu599His
ENST00000484075.5:c.1796T>A	ENSP00000433932.1:p.Leu599His
ENST00000535699.5:c.1589T>A	ENSP00000438786.1:p.Leu530His
ENST00000538660.5:c.1796T>A	ENSP00000438091.1:p.Leu599His
NM_001193640.1:c.1460T>A	NP_001180569.1:p.Leu487His
NM_001257965.1:c.1589T>A	NP_001244894.1:p.Leu530His
NM_001257966.1:c.1796T>A	NP_001244895.1:p.Leu599His
NM_201253.2:c.1796T>A	NP_957705.1:p.Leu599His
NR_047563.1:n.1922+83T>A
NR_047564.1:n.2005T>A
XM_011509365.1:c.1796T>A	XP_011507667.1:p.Leu599His
XM_011509366.1:c.1796T>A	XP_011507668.1:p.Leu599His
XM_011509367.1:c.1796T>A	XP_011507669.1:p.Leu599His
XM_011509368.1:c.1214T>A	XP_011507670.1:p.Leu405His
XM_011509369.1:c.239T>A	XP_011507671.1:p.Leu80His
XM_011509365.2:c.1796T>A	XP_011507667.1:p.Leu599His
XM_011509369.2:c.239T>A	XP_011507671.1:p.Leu80His
XM_017000851.1:c.953T>A	XP_016856340.1:p.Leu318His
XM_017000852.1:c.1796T>A	XP_016856341.1:p.Leu599His
NM_201253.3:c.1796T>A MANE Select	NP_957705.1:p.Leu599His
NM_001193640.2:c.1460T>A	NP_001180569.1:p.Leu487His
NM_001257965.2:c.1589T>A	NP_001244894.1:p.Leu530His
NR_047563.2:n.1874+83T>A
NR_047564.2:n.1957T>A
NM_001257966.2:c.1796T>A	NP_001244895.1:p.Leu599His