Canonical Allele Identifier: CA35893516

Gene: CRB1

Linked Data

• dbSNP Id: rs898324034
• MyVariant Identifiers: chr1:g.197390412C>T (hg19) ; chr1:g.197421282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421282C>T , CM000663.2:g.197421282C>T	GRCh38
NC_000001.10:g.197390412C>T , CM000663.1:g.197390412C>T	GRCh37
NC_000001.9:g.195657035C>T	NCBI36
NG_008483.1:g.158005C>T
NG_008483.2:g.224821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1454C>T MANE Select	ENSP00000356370.3:p.Thr485Ile
ENST00000638467.1:c.1454C>T	ENSP00000491102.1:p.Thr485Ile
ENST00000681519.1:c.335C>T	ENSP00000505267.1:p.Thr112Ile
ENST00000367397.1:c.-404C>T	ENSP00000356367.1:n.-404C>T
ENST00000367399.6:c.1118C>T	ENSP00000356369.2:p.Thr373Ile
ENST00000367400.7:c.1454C>T	ENSP00000356370.3:p.Thr485Ile
ENST00000476483.1:n.414C>T
ENST00000484075.5:c.1454C>T	ENSP00000433932.1:p.Thr485Ile
ENST00000535699.5:c.1247C>T	ENSP00000438786.1:p.Thr416Ile
ENST00000538660.5:c.1454C>T	ENSP00000438091.1:p.Thr485Ile
NM_001193640.1:c.1118C>T	NP_001180569.1:p.Thr373Ile
NM_001257965.1:c.1247C>T	NP_001244894.1:p.Thr416Ile
NM_001257966.1:c.1454C>T	NP_001244895.1:p.Thr485Ile
NM_201253.2:c.1454C>T	NP_957705.1:p.Thr485Ile
NR_047563.1:n.1663C>T
NR_047564.1:n.1663C>T
XM_011509365.1:c.1454C>T	XP_011507667.1:p.Thr485Ile
XM_011509366.1:c.1454C>T	XP_011507668.1:p.Thr485Ile
XM_011509367.1:c.1454C>T	XP_011507669.1:p.Thr485Ile
XM_011509368.1:c.872C>T	XP_011507670.1:p.Thr291Ile
XM_011509369.1:c.-104C>T	XP_011507671.1:n.-104C>T
XM_011509365.2:c.1454C>T	XP_011507667.1:p.Thr485Ile
XM_011509369.2:c.-104C>T	XP_011507671.1:n.-104C>T
XM_017000851.1:c.611C>T	XP_016856340.1:p.Thr204Ile
XM_017000852.1:c.1454C>T	XP_016856341.1:p.Thr485Ile
NM_201253.3:c.1454C>T MANE Select	NP_957705.1:p.Thr485Ile
NM_001193640.2:c.1118C>T	NP_001180569.1:p.Thr373Ile
NM_001257965.2:c.1247C>T	NP_001244894.1:p.Thr416Ile
NR_047563.2:n.1615C>T
NR_047564.2:n.1615C>T
NM_001257966.2:c.1454C>T	NP_001244895.1:p.Thr485Ile