Canonical Allele Identifier: CA422809434

Gene: CRB1

Linked Data

• COSMIC: COSM1162860
• MyVariant Identifiers: chr1:g.197404395C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435265C>T , CM000663.2:g.197435265C>T	GRCh38
NC_000001.10:g.197404395C>T , CM000663.1:g.197404395C>T	GRCh37
NC_000001.9:g.195671018C>T	NCBI36
NG_008483.1:g.171988C>T
NG_008483.2:g.238804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3402C>T MANE Select	ENSP00000356370.3:p.Val1134=
ENST00000638467.1:c.3402C>T	ENSP00000491102.1:p.Val1134=
ENST00000681519.1:c.2283C>T	ENSP00000505267.1:p.Val761=
ENST00000367397.1:c.1545C>T	ENSP00000356367.1:p.Val515=
ENST00000367399.6:c.3066C>T	ENSP00000356369.2:p.Val1022=
ENST00000367400.7:c.3402C>T	ENSP00000356370.3:p.Val1134=
ENST00000484075.5:c.3402C>T	ENSP00000433932.1:p.Val1134=
ENST00000535699.5:c.3330C>T	ENSP00000438786.1:p.Val1110=
ENST00000538660.5:c.2129-335C>T	ENSP00000438091.1:n.2129-335C>T
NM_001193640.1:c.3066C>T	NP_001180569.1:p.Val1022=
NM_001257965.1:c.3330C>T	NP_001244894.1:p.Val1110=
NM_001257966.1:c.2129-335C>T	NP_001244895.1:n.2129-335C>T
NM_201253.2:c.3402C>T	NP_957705.1:p.Val1134=
NR_047563.1:n.3403C>T
NR_047564.1:n.3611C>T
XM_011509365.1:c.3402C>T	XP_011507667.1:p.Val1134=
XM_011509366.1:c.3402C>T	XP_011507668.1:p.Val1134=
XM_011509367.1:c.3402C>T	XP_011507669.1:p.Val1134=
XM_011509368.1:c.2820C>T	XP_011507670.1:p.Val940=
XM_011509369.1:c.1845C>T	XP_011507671.1:p.Val615=
XM_011509365.2:c.3402C>T	XP_011507667.1:p.Val1134=
XM_011509369.2:c.1845C>T	XP_011507671.1:p.Val615=
XM_017000851.1:c.2559C>T	XP_016856340.1:p.Val853=
XM_017000852.1:c.3537C>T	XP_016856341.1:p.Val1179=
NM_201253.3:c.3402C>T MANE Select	NP_957705.1:p.Val1134=
NM_001193640.2:c.3066C>T	NP_001180569.1:p.Val1022=
NM_001257965.2:c.3330C>T	NP_001244894.1:p.Val1110=
NR_047563.2:n.3355C>T
NR_047564.2:n.3563C>T
NM_001257966.2:c.2129-335C>T	NP_001244895.1:n.2129-335C>T