Canonical Allele Identifier: CA344044369

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403988C>A (hg19) ; chr1:g.197434858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434858C>A , CM000663.2:g.197434858C>A	GRCh38
NC_000001.10:g.197403988C>A , CM000663.1:g.197403988C>A	GRCh37
NC_000001.9:g.195670611C>A	NCBI36
NG_008483.1:g.171581C>A
NG_008483.2:g.238397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2995C>A MANE Select	ENSP00000356370.3:p.Leu999Ile
ENST00000638467.1:c.2995C>A	ENSP00000491102.1:p.Leu999Ile
ENST00000681519.1:c.1876C>A	ENSP00000505267.1:p.Leu626Ile
ENST00000367397.1:c.1138C>A	ENSP00000356367.1:p.Leu380Ile
ENST00000367399.6:c.2659C>A	ENSP00000356369.2:p.Leu887Ile
ENST00000367400.7:c.2995C>A	ENSP00000356370.3:p.Leu999Ile
ENST00000484075.5:c.2995C>A	ENSP00000433932.1:p.Leu999Ile
ENST00000535699.5:c.2923C>A	ENSP00000438786.1:p.Leu975Ile
ENST00000538660.5:c.2129-742C>A	ENSP00000438091.1:n.2129-742C>A
NM_001193640.1:c.2659C>A	NP_001180569.1:p.Leu887Ile
NM_001257965.1:c.2923C>A	NP_001244894.1:p.Leu975Ile
NM_001257966.1:c.2129-742C>A	NP_001244895.1:n.2129-742C>A
NM_201253.2:c.2995C>A	NP_957705.1:p.Leu999Ile
NR_047563.1:n.2996C>A
NR_047564.1:n.3204C>A
XM_011509365.1:c.2995C>A	XP_011507667.1:p.Leu999Ile
XM_011509366.1:c.2995C>A	XP_011507668.1:p.Leu999Ile
XM_011509367.1:c.2995C>A	XP_011507669.1:p.Leu999Ile
XM_011509368.1:c.2413C>A	XP_011507670.1:p.Leu805Ile
XM_011509369.1:c.1438C>A	XP_011507671.1:p.Leu480Ile
XM_011509365.2:c.2995C>A	XP_011507667.1:p.Leu999Ile
XM_011509369.2:c.1438C>A	XP_011507671.1:p.Leu480Ile
XM_017000851.1:c.2152C>A	XP_016856340.1:p.Leu718Ile
XM_017000852.1:c.3130C>A	XP_016856341.1:p.Leu1044Ile
NM_201253.3:c.2995C>A MANE Select	NP_957705.1:p.Leu999Ile
NM_001193640.2:c.2659C>A	NP_001180569.1:p.Leu887Ile
NM_001257965.2:c.2923C>A	NP_001244894.1:p.Leu975Ile
NR_047563.2:n.2948C>A
NR_047564.2:n.3156C>A
NM_001257966.2:c.2129-742C>A	NP_001244895.1:n.2129-742C>A