Canonical Allele Identifier: CA344032914

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390883G>A (hg19) ; chr1:g.197421753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421753G>A , CM000663.2:g.197421753G>A	GRCh38
NC_000001.10:g.197390883G>A , CM000663.1:g.197390883G>A	GRCh37
NC_000001.9:g.195657506G>A	NCBI36
NG_008483.1:g.158476G>A
NG_008483.2:g.225292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1925G>A MANE Select	ENSP00000356370.3:p.Cys642Tyr
ENST00000638467.1:c.1925G>A	ENSP00000491102.1:p.Cys642Tyr
ENST00000681519.1:c.806G>A	ENSP00000505267.1:p.Cys269Tyr
ENST00000367397.1:c.68G>A	ENSP00000356367.1:p.Cys23Tyr
ENST00000367399.6:c.1589G>A	ENSP00000356369.2:p.Cys530Tyr
ENST00000367400.7:c.1925G>A	ENSP00000356370.3:p.Cys642Tyr
ENST00000484075.5:c.1925G>A	ENSP00000433932.1:p.Cys642Tyr
ENST00000535699.5:c.1718G>A	ENSP00000438786.1:p.Cys573Tyr
ENST00000538660.5:c.1925G>A	ENSP00000438091.1:p.Cys642Tyr
NM_001193640.1:c.1589G>A	NP_001180569.1:p.Cys530Tyr
NM_001257965.1:c.1718G>A	NP_001244894.1:p.Cys573Tyr
NM_001257966.1:c.1925G>A	NP_001244895.1:p.Cys642Tyr
NM_201253.2:c.1925G>A	NP_957705.1:p.Cys642Tyr
NR_047563.1:n.1926G>A
NR_047564.1:n.2134G>A
XM_011509365.1:c.1925G>A	XP_011507667.1:p.Cys642Tyr
XM_011509366.1:c.1925G>A	XP_011507668.1:p.Cys642Tyr
XM_011509367.1:c.1925G>A	XP_011507669.1:p.Cys642Tyr
XM_011509368.1:c.1343G>A	XP_011507670.1:p.Cys448Tyr
XM_011509369.1:c.368G>A	XP_011507671.1:p.Cys123Tyr
XM_011509365.2:c.1925G>A	XP_011507667.1:p.Cys642Tyr
XM_011509369.2:c.368G>A	XP_011507671.1:p.Cys123Tyr
XM_017000851.1:c.1082G>A	XP_016856340.1:p.Cys361Tyr
XM_017000852.1:c.1925G>A	XP_016856341.1:p.Cys642Tyr
NM_201253.3:c.1925G>A MANE Select	NP_957705.1:p.Cys642Tyr
NM_001193640.2:c.1589G>A	NP_001180569.1:p.Cys530Tyr
NM_001257965.2:c.1718G>A	NP_001244894.1:p.Cys573Tyr
NR_047563.2:n.1878G>A
NR_047564.2:n.2086G>A
NM_001257966.2:c.1925G>A	NP_001244895.1:p.Cys642Tyr