Canonical Allele Identifier: CA422809293

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404380T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435250T>A , CM000663.2:g.197435250T>A	GRCh38
NC_000001.10:g.197404380T>A , CM000663.1:g.197404380T>A	GRCh37
NC_000001.9:g.195671003T>A	NCBI36
NG_008483.1:g.171973T>A
NG_008483.2:g.238789T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3387T>A MANE Select	ENSP00000356370.3:p.Ser1129=
ENST00000638467.1:c.3387T>A	ENSP00000491102.1:p.Ser1129=
ENST00000681519.1:c.2268T>A	ENSP00000505267.1:p.Ser756=
ENST00000367397.1:c.1530T>A	ENSP00000356367.1:p.Ser510=
ENST00000367399.6:c.3051T>A	ENSP00000356369.2:p.Ser1017=
ENST00000367400.7:c.3387T>A	ENSP00000356370.3:p.Ser1129=
ENST00000484075.5:c.3387T>A	ENSP00000433932.1:p.Ser1129=
ENST00000535699.5:c.3315T>A	ENSP00000438786.1:p.Ser1105=
ENST00000538660.5:c.2129-350T>A	ENSP00000438091.1:n.2129-350T>A
NM_001193640.1:c.3051T>A	NP_001180569.1:p.Ser1017=
NM_001257965.1:c.3315T>A	NP_001244894.1:p.Ser1105=
NM_001257966.1:c.2129-350T>A	NP_001244895.1:n.2129-350T>A
NM_201253.2:c.3387T>A	NP_957705.1:p.Ser1129=
NR_047563.1:n.3388T>A
NR_047564.1:n.3596T>A
XM_011509365.1:c.3387T>A	XP_011507667.1:p.Ser1129=
XM_011509366.1:c.3387T>A	XP_011507668.1:p.Ser1129=
XM_011509367.1:c.3387T>A	XP_011507669.1:p.Ser1129=
XM_011509368.1:c.2805T>A	XP_011507670.1:p.Ser935=
XM_011509369.1:c.1830T>A	XP_011507671.1:p.Ser610=
XM_011509365.2:c.3387T>A	XP_011507667.1:p.Ser1129=
XM_011509369.2:c.1830T>A	XP_011507671.1:p.Ser610=
XM_017000851.1:c.2544T>A	XP_016856340.1:p.Ser848=
XM_017000852.1:c.3522T>A	XP_016856341.1:p.Ser1174=
NM_201253.3:c.3387T>A MANE Select	NP_957705.1:p.Ser1129=
NM_001193640.2:c.3051T>A	NP_001180569.1:p.Ser1017=
NM_001257965.2:c.3315T>A	NP_001244894.1:p.Ser1105=
NR_047563.2:n.3340T>A
NR_047564.2:n.3548T>A
NM_001257966.2:c.2129-350T>A	NP_001244895.1:n.2129-350T>A