Canonical Allele Identifier: CA1312245

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1061323
• ClinVar RCV Id: RCV001370883 ; RCV001831297
• dbSNP Id: rs766793013
• ExAC: 1:197403902 C / T
• gnomAD v2: 1-197403902-C-T
• MyVariant Identifiers: chr1:g.197403902C>T (hg19) ; chr1:g.197434772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434772C>T , CM000663.2:g.197434772C>T	GRCh38
NC_000001.10:g.197403902C>T , CM000663.1:g.197403902C>T	GRCh37
NC_000001.9:g.195670525C>T	NCBI36
NG_008483.1:g.171495C>T
NG_008483.2:g.238311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2909C>T MANE Select	ENSP00000356370.3:p.Thr970Ile
ENST00000638467.1:c.2909C>T	ENSP00000491102.1:p.Thr970Ile
ENST00000681519.1:c.1790C>T	ENSP00000505267.1:p.Thr597Ile
ENST00000367397.1:c.1052C>T	ENSP00000356367.1:p.Thr351Ile
ENST00000367399.6:c.2573C>T	ENSP00000356369.2:p.Thr858Ile
ENST00000367400.7:c.2909C>T	ENSP00000356370.3:p.Thr970Ile
ENST00000484075.5:c.2909C>T	ENSP00000433932.1:p.Thr970Ile
ENST00000535699.5:c.2837C>T	ENSP00000438786.1:p.Thr946Ile
ENST00000538660.5:c.2129-828C>T	ENSP00000438091.1:n.2129-828C>T
NM_001193640.1:c.2573C>T	NP_001180569.1:p.Thr858Ile
NM_001257965.1:c.2837C>T	NP_001244894.1:p.Thr946Ile
NM_001257966.1:c.2129-828C>T	NP_001244895.1:n.2129-828C>T
NM_201253.2:c.2909C>T	NP_957705.1:p.Thr970Ile
NR_047563.1:n.2910C>T
NR_047564.1:n.3118C>T
XM_011509365.1:c.2909C>T	XP_011507667.1:p.Thr970Ile
XM_011509366.1:c.2909C>T	XP_011507668.1:p.Thr970Ile
XM_011509367.1:c.2909C>T	XP_011507669.1:p.Thr970Ile
XM_011509368.1:c.2327C>T	XP_011507670.1:p.Thr776Ile
XM_011509369.1:c.1352C>T	XP_011507671.1:p.Thr451Ile
XM_011509365.2:c.2909C>T	XP_011507667.1:p.Thr970Ile
XM_011509369.2:c.1352C>T	XP_011507671.1:p.Thr451Ile
XM_017000851.1:c.2066C>T	XP_016856340.1:p.Thr689Ile
XM_017000852.1:c.3044C>T	XP_016856341.1:p.Thr1015Ile
NM_201253.3:c.2909C>T MANE Select	NP_957705.1:p.Thr970Ile
NM_001193640.2:c.2573C>T	NP_001180569.1:p.Thr858Ile
NM_001257965.2:c.2837C>T	NP_001244894.1:p.Thr946Ile
NR_047563.2:n.2862C>T
NR_047564.2:n.3070C>T
NM_001257966.2:c.2129-828C>T	NP_001244895.1:n.2129-828C>T