Canonical Allele Identifier: CA1312130

Gene: CRB1

Linked Data

• ClinVar Variation Id: 372352
• ClinVar RCV Id: RCV001376383 ; RCV001810876 ; RCV003137989 ; RCV003475999
• dbSNP Id: rs116471343
• ExAC: 1:197396961 C / A
• gnomAD v2: 1-197396961-C-A
• gnomAD v3: 1-197427831-C-A
• gnomAD v4: 1-197427831-C-A
• MyVariant Identifiers: chr1:g.197396961C>A (hg19) ; chr1:g.197427831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427831C>A , CM000663.2:g.197427831C>A	GRCh38
NC_000001.10:g.197396961C>A , CM000663.1:g.197396961C>A	GRCh37
NC_000001.9:g.195663584C>A	NCBI36
NG_008483.1:g.164554C>A
NG_008483.2:g.231370C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2506C>A MANE Select	ENSP00000356370.3:p.Pro836Thr
ENST00000638467.1:c.2506C>A	ENSP00000491102.1:p.Pro836Thr
ENST00000681519.1:c.1387C>A	ENSP00000505267.1:p.Pro463Thr
ENST00000367397.1:c.649C>A	ENSP00000356367.1:p.Pro217Thr
ENST00000367399.6:c.2170C>A	ENSP00000356369.2:p.Pro724Thr
ENST00000367400.7:c.2506C>A	ENSP00000356370.3:p.Pro836Thr
ENST00000480086.2:n.407C>A
ENST00000484075.5:c.2506C>A	ENSP00000433932.1:p.Pro836Thr
ENST00000535699.5:c.2299C>A	ENSP00000438786.1:p.Pro767Thr
ENST00000538660.5:c.2128+5875C>A	ENSP00000438091.1:n.2128+5875C>A
NM_001193640.1:c.2170C>A	NP_001180569.1:p.Pro724Thr
NM_001257965.1:c.2299C>A	NP_001244894.1:p.Pro767Thr
NM_001257966.1:c.2128+5875C>A	NP_001244895.1:n.2128+5875C>A
NM_201253.2:c.2506C>A	NP_957705.1:p.Pro836Thr
NR_047563.1:n.2507C>A
NR_047564.1:n.2715C>A
XM_011509365.1:c.2506C>A	XP_011507667.1:p.Pro836Thr
XM_011509366.1:c.2506C>A	XP_011507668.1:p.Pro836Thr
XM_011509367.1:c.2506C>A	XP_011507669.1:p.Pro836Thr
XM_011509368.1:c.1924C>A	XP_011507670.1:p.Pro642Thr
XM_011509369.1:c.949C>A	XP_011507671.1:p.Pro317Thr
XM_011509365.2:c.2506C>A	XP_011507667.1:p.Pro836Thr
XM_011509369.2:c.949C>A	XP_011507671.1:p.Pro317Thr
XM_017000851.1:c.1663C>A	XP_016856340.1:p.Pro555Thr
XM_017000852.1:c.2506C>A	XP_016856341.1:p.Pro836Thr
NM_201253.3:c.2506C>A MANE Select	NP_957705.1:p.Pro836Thr
NM_001193640.2:c.2170C>A	NP_001180569.1:p.Pro724Thr
NM_001257965.2:c.2299C>A	NP_001244894.1:p.Pro767Thr
NR_047563.2:n.2459C>A
NR_047564.2:n.2667C>A
NM_001257966.2:c.2128+5875C>A	NP_001244895.1:n.2128+5875C>A