Canonical Allele Identifier: CA422809165

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404314C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435184C>T , CM000663.2:g.197435184C>T	GRCh38
NC_000001.10:g.197404314C>T , CM000663.1:g.197404314C>T	GRCh37
NC_000001.9:g.195670937C>T	NCBI36
NG_008483.1:g.171907C>T
NG_008483.2:g.238723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3321C>T MANE Select	ENSP00000356370.3:p.Leu1107=
ENST00000638467.1:c.3321C>T	ENSP00000491102.1:p.Leu1107=
ENST00000681519.1:c.2202C>T	ENSP00000505267.1:p.Leu734=
ENST00000367397.1:c.1464C>T	ENSP00000356367.1:p.Leu488=
ENST00000367399.6:c.2985C>T	ENSP00000356369.2:p.Leu995=
ENST00000367400.7:c.3321C>T	ENSP00000356370.3:p.Leu1107=
ENST00000484075.5:c.3321C>T	ENSP00000433932.1:p.Leu1107=
ENST00000535699.5:c.3249C>T	ENSP00000438786.1:p.Leu1083=
ENST00000538660.5:c.2129-416C>T	ENSP00000438091.1:n.2129-416C>T
NM_001193640.1:c.2985C>T	NP_001180569.1:p.Leu995=
NM_001257965.1:c.3249C>T	NP_001244894.1:p.Leu1083=
NM_001257966.1:c.2129-416C>T	NP_001244895.1:n.2129-416C>T
NM_201253.2:c.3321C>T	NP_957705.1:p.Leu1107=
NR_047563.1:n.3322C>T
NR_047564.1:n.3530C>T
XM_011509365.1:c.3321C>T	XP_011507667.1:p.Leu1107=
XM_011509366.1:c.3321C>T	XP_011507668.1:p.Leu1107=
XM_011509367.1:c.3321C>T	XP_011507669.1:p.Leu1107=
XM_011509368.1:c.2739C>T	XP_011507670.1:p.Leu913=
XM_011509369.1:c.1764C>T	XP_011507671.1:p.Leu588=
XM_011509365.2:c.3321C>T	XP_011507667.1:p.Leu1107=
XM_011509369.2:c.1764C>T	XP_011507671.1:p.Leu588=
XM_017000851.1:c.2478C>T	XP_016856340.1:p.Leu826=
XM_017000852.1:c.3456C>T	XP_016856341.1:p.Leu1152=
NM_201253.3:c.3321C>T MANE Select	NP_957705.1:p.Leu1107=
NM_001193640.2:c.2985C>T	NP_001180569.1:p.Leu995=
NM_001257965.2:c.3249C>T	NP_001244894.1:p.Leu1083=
NR_047563.2:n.3274C>T
NR_047564.2:n.3482C>T
NM_001257966.2:c.2129-416C>T	NP_001244895.1:n.2129-416C>T