Canonical Allele Identifier: CA35907029

Gene: CRB1

Linked Data

• dbSNP Id: rs776256497
• gnomAD v2: 1-197404103-T-C
• gnomAD v4: 1-197434973-T-C
• MyVariant Identifiers: chr1:g.197404103T>C (hg19) ; chr1:g.197434973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434973T>C , CM000663.2:g.197434973T>C	GRCh38
NC_000001.10:g.197404103T>C , CM000663.1:g.197404103T>C	GRCh37
NC_000001.9:g.195670726T>C	NCBI36
NG_008483.1:g.171696T>C
NG_008483.2:g.238512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3110T>C MANE Select	ENSP00000356370.3:p.Val1037Ala
ENST00000638467.1:c.3110T>C	ENSP00000491102.1:p.Val1037Ala
ENST00000681519.1:c.1991T>C	ENSP00000505267.1:p.Val664Ala
ENST00000367397.1:c.1253T>C	ENSP00000356367.1:p.Val418Ala
ENST00000367399.6:c.2774T>C	ENSP00000356369.2:p.Val925Ala
ENST00000367400.7:c.3110T>C	ENSP00000356370.3:p.Val1037Ala
ENST00000484075.5:c.3110T>C	ENSP00000433932.1:p.Val1037Ala
ENST00000535699.5:c.3038T>C	ENSP00000438786.1:p.Val1013Ala
ENST00000538660.5:c.2129-627T>C	ENSP00000438091.1:n.2129-627T>C
NM_001193640.1:c.2774T>C	NP_001180569.1:p.Val925Ala
NM_001257965.1:c.3038T>C	NP_001244894.1:p.Val1013Ala
NM_001257966.1:c.2129-627T>C	NP_001244895.1:n.2129-627T>C
NM_201253.2:c.3110T>C	NP_957705.1:p.Val1037Ala
NR_047563.1:n.3111T>C
NR_047564.1:n.3319T>C
XM_011509365.1:c.3110T>C	XP_011507667.1:p.Val1037Ala
XM_011509366.1:c.3110T>C	XP_011507668.1:p.Val1037Ala
XM_011509367.1:c.3110T>C	XP_011507669.1:p.Val1037Ala
XM_011509368.1:c.2528T>C	XP_011507670.1:p.Val843Ala
XM_011509369.1:c.1553T>C	XP_011507671.1:p.Val518Ala
XM_011509365.2:c.3110T>C	XP_011507667.1:p.Val1037Ala
XM_011509369.2:c.1553T>C	XP_011507671.1:p.Val518Ala
XM_017000851.1:c.2267T>C	XP_016856340.1:p.Val756Ala
XM_017000852.1:c.3245T>C	XP_016856341.1:p.Val1082Ala
NM_201253.3:c.3110T>C MANE Select	NP_957705.1:p.Val1037Ala
NM_001193640.2:c.2774T>C	NP_001180569.1:p.Val925Ala
NM_001257965.2:c.3038T>C	NP_001244894.1:p.Val1013Ala
NR_047563.2:n.3063T>C
NR_047564.2:n.3271T>C
NM_001257966.2:c.2129-627T>C	NP_001244895.1:n.2129-627T>C