Canonical Allele Identifier: CA344036003

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446978T>A (hg19) ; chr1:g.197477848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477848T>A , CM000663.2:g.197477848T>A	GRCh38
NC_000001.10:g.197446978T>A , CM000663.1:g.197446978T>A	GRCh37
NC_000001.9:g.195713601T>A	NCBI36
NG_008483.1:g.214571T>A
NG_008483.2:g.281387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4190T>A MANE Select	ENSP00000356370.3:p.Met1397Lys
ENST00000367399.6:c.3854T>A	ENSP00000356369.2:p.Met1285Lys
ENST00000367400.7:c.4190T>A	ENSP00000356370.3:p.Met1397Lys
ENST00000448952.1:c.424T>A	ENSP00000395407.1:n.424T>A
ENST00000484075.5:c.*301T>A	ENSP00000433932.1:n.*301T>A
ENST00000535699.5:c.4118T>A	ENSP00000438786.1:p.Met1373Lys
ENST00000538660.5:c.2582T>A	ENSP00000438091.1:p.Met861Lys
NM_001193640.1:c.3854T>A	NP_001180569.1:p.Met1285Lys
NM_001257965.1:c.4118T>A	NP_001244894.1:p.Met1373Lys
NM_001257966.1:c.2582T>A	NP_001244895.1:p.Met861Lys
NM_201253.2:c.4190T>A	NP_957705.1:p.Met1397Lys
NR_047563.1:n.4191T>A
NR_047564.1:n.4641T>A
XM_011509366.1:c.*295T>A	XP_011507668.1:n.*295T>A
XM_011509367.1:c.*169T>A	XP_011507669.1:n.*169T>A
XM_011509368.1:c.3608T>A	XP_011507670.1:p.Met1203Lys
XM_011509369.1:c.2633T>A	XP_011507671.1:p.Met878Lys
XM_011509369.2:c.2633T>A	XP_011507671.1:p.Met878Lys
XM_017000851.1:c.3347T>A	XP_016856340.1:p.Met1116Lys
XM_017000852.1:c.4325T>A	XP_016856341.1:p.Met1442Lys
NM_201253.3:c.4190T>A MANE Select	NP_957705.1:p.Met1397Lys
NM_001193640.2:c.3854T>A	NP_001180569.1:p.Met1285Lys
NM_001257965.2:c.4118T>A	NP_001244894.1:p.Met1373Lys
NR_047563.2:n.4143T>A
NR_047564.2:n.4593T>A
NM_001257966.2:c.2582T>A	NP_001244895.1:p.Met861Lys