Canonical Allele Identifier: CA422677511

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477727-C-T
• MyVariant Identifiers: chr1:g.197446857C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477727C>T , CM000663.2:g.197477727C>T	GRCh38
NC_000001.10:g.197446857C>T , CM000663.1:g.197446857C>T	GRCh37
NC_000001.9:g.195713480C>T	NCBI36
NG_008483.1:g.214450C>T
NG_008483.2:g.281266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4069C>T MANE Select	ENSP00000356370.3:p.Leu1357=
ENST00000367399.6:c.3733C>T	ENSP00000356369.2:p.Leu1245=
ENST00000367400.7:c.4069C>T	ENSP00000356370.3:p.Leu1357=
ENST00000448952.1:c.303C>T	ENSP00000395407.1:n.303C>T
ENST00000484075.5:c.*180C>T	ENSP00000433932.1:n.*180C>T
ENST00000535699.5:c.3997C>T	ENSP00000438786.1:p.Leu1333=
ENST00000538660.5:c.2461C>T	ENSP00000438091.1:p.Leu821=
NM_001193640.1:c.3733C>T	NP_001180569.1:p.Leu1245=
NM_001257965.1:c.3997C>T	NP_001244894.1:p.Leu1333=
NM_001257966.1:c.2461C>T	NP_001244895.1:p.Leu821=
NM_201253.2:c.4069C>T	NP_957705.1:p.Leu1357=
NR_047563.1:n.4070C>T
NR_047564.1:n.4520C>T
XM_011509366.1:c.*174C>T	XP_011507668.1:n.*174C>T
XM_011509367.1:c.*48C>T	XP_011507669.1:n.*48C>T
XM_011509368.1:c.3487C>T	XP_011507670.1:p.Leu1163=
XM_011509369.1:c.2512C>T	XP_011507671.1:p.Leu838=
XM_011509369.2:c.2512C>T	XP_011507671.1:p.Leu838=
XM_017000851.1:c.3226C>T	XP_016856340.1:p.Leu1076=
XM_017000852.1:c.4204C>T	XP_016856341.1:p.Leu1402=
NM_201253.3:c.4069C>T MANE Select	NP_957705.1:p.Leu1357=
NM_001193640.2:c.3733C>T	NP_001180569.1:p.Leu1245=
NM_001257965.2:c.3997C>T	NP_001244894.1:p.Leu1333=
NR_047563.2:n.4022C>T
NR_047564.2:n.4472C>T
NM_001257966.2:c.2461C>T	NP_001244895.1:p.Leu821=