Canonical Allele Identifier: CA344035503

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446843C>T (hg19) ; chr1:g.197477713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477713C>T , CM000663.2:g.197477713C>T	GRCh38
NC_000001.10:g.197446843C>T , CM000663.1:g.197446843C>T	GRCh37
NC_000001.9:g.195713466C>T	NCBI36
NG_008483.1:g.214436C>T
NG_008483.2:g.281252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4055C>T MANE Select	ENSP00000356370.3:p.Thr1352Ile
ENST00000367399.6:c.3719C>T	ENSP00000356369.2:p.Thr1240Ile
ENST00000367400.7:c.4055C>T	ENSP00000356370.3:p.Thr1352Ile
ENST00000448952.1:c.289C>T	ENSP00000395407.1:n.289C>T
ENST00000484075.5:c.*166C>T	ENSP00000433932.1:n.*166C>T
ENST00000535699.5:c.3983C>T	ENSP00000438786.1:p.Thr1328Ile
ENST00000538660.5:c.2447C>T	ENSP00000438091.1:p.Thr816Ile
NM_001193640.1:c.3719C>T	NP_001180569.1:p.Thr1240Ile
NM_001257965.1:c.3983C>T	NP_001244894.1:p.Thr1328Ile
NM_001257966.1:c.2447C>T	NP_001244895.1:p.Thr816Ile
NM_201253.2:c.4055C>T	NP_957705.1:p.Thr1352Ile
NR_047563.1:n.4056C>T
NR_047564.1:n.4506C>T
XM_011509366.1:c.*160C>T	XP_011507668.1:n.*160C>T
XM_011509367.1:c.*34C>T	XP_011507669.1:n.*34C>T
XM_011509368.1:c.3473C>T	XP_011507670.1:p.Thr1158Ile
XM_011509369.1:c.2498C>T	XP_011507671.1:p.Thr833Ile
XM_011509369.2:c.2498C>T	XP_011507671.1:p.Thr833Ile
XM_017000851.1:c.3212C>T	XP_016856340.1:p.Thr1071Ile
XM_017000852.1:c.4190C>T	XP_016856341.1:p.Thr1397Ile
NM_201253.3:c.4055C>T MANE Select	NP_957705.1:p.Thr1352Ile
NM_001193640.2:c.3719C>T	NP_001180569.1:p.Thr1240Ile
NM_001257965.2:c.3983C>T	NP_001244894.1:p.Thr1328Ile
NR_047563.2:n.4008C>T
NR_047564.2:n.4458C>T
NM_001257966.2:c.2447C>T	NP_001244895.1:p.Thr816Ile