Canonical Allele Identifier: CA422808730

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1149423
• ClinVar RCV Id: RCV001489647
• dbSNP Id: rs2125499296
• gnomAD v4: 1-197434911-C-T
• MyVariant Identifiers: chr1:g.197404041C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434911C>T , CM000663.2:g.197434911C>T	GRCh38
NC_000001.10:g.197404041C>T , CM000663.1:g.197404041C>T	GRCh37
NC_000001.9:g.195670664C>T	NCBI36
NG_008483.1:g.171634C>T
NG_008483.2:g.238450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3048C>T MANE Select	ENSP00000356370.3:p.Asn1016=
ENST00000638467.1:c.3048C>T	ENSP00000491102.1:p.Asn1016=
ENST00000681519.1:c.1929C>T	ENSP00000505267.1:p.Asn643=
ENST00000367397.1:c.1191C>T	ENSP00000356367.1:p.Asn397=
ENST00000367399.6:c.2712C>T	ENSP00000356369.2:p.Asn904=
ENST00000367400.7:c.3048C>T	ENSP00000356370.3:p.Asn1016=
ENST00000484075.5:c.3048C>T	ENSP00000433932.1:p.Asn1016=
ENST00000535699.5:c.2976C>T	ENSP00000438786.1:p.Asn992=
ENST00000538660.5:c.2129-689C>T	ENSP00000438091.1:n.2129-689C>T
NM_001193640.1:c.2712C>T	NP_001180569.1:p.Asn904=
NM_001257965.1:c.2976C>T	NP_001244894.1:p.Asn992=
NM_001257966.1:c.2129-689C>T	NP_001244895.1:n.2129-689C>T
NM_201253.2:c.3048C>T	NP_957705.1:p.Asn1016=
NR_047563.1:n.3049C>T
NR_047564.1:n.3257C>T
XM_011509365.1:c.3048C>T	XP_011507667.1:p.Asn1016=
XM_011509366.1:c.3048C>T	XP_011507668.1:p.Asn1016=
XM_011509367.1:c.3048C>T	XP_011507669.1:p.Asn1016=
XM_011509368.1:c.2466C>T	XP_011507670.1:p.Asn822=
XM_011509369.1:c.1491C>T	XP_011507671.1:p.Asn497=
XM_011509365.2:c.3048C>T	XP_011507667.1:p.Asn1016=
XM_011509369.2:c.1491C>T	XP_011507671.1:p.Asn497=
XM_017000851.1:c.2205C>T	XP_016856340.1:p.Asn735=
XM_017000852.1:c.3183C>T	XP_016856341.1:p.Asn1061=
NM_201253.3:c.3048C>T MANE Select	NP_957705.1:p.Asn1016=
NM_001193640.2:c.2712C>T	NP_001180569.1:p.Asn904=
NM_001257965.2:c.2976C>T	NP_001244894.1:p.Asn992=
NR_047563.2:n.3001C>T
NR_047564.2:n.3209C>T
NM_001257966.2:c.2129-689C>T	NP_001244895.1:n.2129-689C>T