Canonical Allele Identifier: CA228047

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99904
• ClinVar RCV Id: RCV000086350 ; RCV001250646
• dbSNP Id: rs62635649
• MyVariant Identifiers: chr1:g.197411378T>A (hg19) ; chr1:g.197442248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442248T>A , CM000663.2:g.197442248T>A	GRCh38
NC_000001.10:g.197411378T>A , CM000663.1:g.197411378T>A	GRCh37
NC_000001.9:g.195678001T>A	NCBI36
NG_008483.1:g.178971T>A
NG_008483.2:g.245787T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3961T>A MANE Select	ENSP00000356370.3:p.Cys1321Ser
ENST00000638467.1:c.3961T>A	ENSP00000491102.1:p.Cys1321Ser
ENST00000681519.1:c.2842T>A	ENSP00000505267.1:p.Cys948Ser
ENST00000367397.1:c.*3569T>A	ENSP00000356367.1:n.*3569T>A
ENST00000367399.6:c.3625T>A	ENSP00000356369.2:p.Cys1209Ser
ENST00000367400.7:c.3961T>A	ENSP00000356370.3:p.Cys1321Ser
ENST00000448952.1:c.79T>A	ENSP00000395407.1:p.Cys27Ser
ENST00000484075.5:c.3961T>A	ENSP00000433932.1:p.Cys1321Ser
ENST00000535699.5:c.3889T>A	ENSP00000438786.1:p.Cys1297Ser
ENST00000538660.5:c.2353T>A	ENSP00000438091.1:p.Cys785Ser
NM_001193640.1:c.3625T>A	NP_001180569.1:p.Cys1209Ser
NM_001257965.1:c.3889T>A	NP_001244894.1:p.Cys1297Ser
NM_001257966.1:c.2353T>A	NP_001244895.1:p.Cys785Ser
NM_201253.2:c.3961T>A	NP_957705.1:p.Cys1321Ser
NR_047563.1:n.3962T>A
NR_047564.1:n.4170T>A
XM_011509365.1:c.3961T>A	XP_011507667.1:p.Cys1321Ser
XM_011509366.1:c.3961T>A	XP_011507668.1:p.Cys1321Ser
XM_011509367.1:c.3878+3573T>A	XP_011507669.1:n.3878+3573T>A
XM_011509368.1:c.3379T>A	XP_011507670.1:p.Cys1127Ser
XM_011509369.1:c.2404T>A	XP_011507671.1:p.Cys802Ser
XM_011509365.2:c.3961T>A	XP_011507667.1:p.Cys1321Ser
XM_011509369.2:c.2404T>A	XP_011507671.1:p.Cys802Ser
XM_017000851.1:c.3118T>A	XP_016856340.1:p.Cys1040Ser
XM_017000852.1:c.4096T>A	XP_016856341.1:p.Cys1366Ser
NM_201253.3:c.3961T>A MANE Select	NP_957705.1:p.Cys1321Ser
NM_001193640.2:c.3625T>A	NP_001180569.1:p.Cys1209Ser
NM_001257965.2:c.3889T>A	NP_001244894.1:p.Cys1297Ser
NR_047563.2:n.3914T>A
NR_047564.2:n.4122T>A
NM_001257966.2:c.2353T>A	NP_001244895.1:p.Cys785Ser