Canonical Allele Identifier: CA344046609

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1009773
• ClinVar RCV Id: RCV001307305
• dbSNP Id: rs1665074618
• MyVariant Identifiers: chr1:g.197404202G>T (hg19) ; chr1:g.197435072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435072G>T , CM000663.2:g.197435072G>T	GRCh38
NC_000001.10:g.197404202G>T , CM000663.1:g.197404202G>T	GRCh37
NC_000001.9:g.195670825G>T	NCBI36
NG_008483.1:g.171795G>T
NG_008483.2:g.238611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3209G>T MANE Select	ENSP00000356370.3:p.Ser1070Ile
ENST00000638467.1:c.3209G>T	ENSP00000491102.1:p.Ser1070Ile
ENST00000681519.1:c.2090G>T	ENSP00000505267.1:p.Ser697Ile
ENST00000367397.1:c.1352G>T	ENSP00000356367.1:p.Ser451Ile
ENST00000367399.6:c.2873G>T	ENSP00000356369.2:p.Ser958Ile
ENST00000367400.7:c.3209G>T	ENSP00000356370.3:p.Ser1070Ile
ENST00000484075.5:c.3209G>T	ENSP00000433932.1:p.Ser1070Ile
ENST00000535699.5:c.3137G>T	ENSP00000438786.1:p.Ser1046Ile
ENST00000538660.5:c.2129-528G>T	ENSP00000438091.1:n.2129-528G>T
NM_001193640.1:c.2873G>T	NP_001180569.1:p.Ser958Ile
NM_001257965.1:c.3137G>T	NP_001244894.1:p.Ser1046Ile
NM_001257966.1:c.2129-528G>T	NP_001244895.1:n.2129-528G>T
NM_201253.2:c.3209G>T	NP_957705.1:p.Ser1070Ile
NR_047563.1:n.3210G>T
NR_047564.1:n.3418G>T
XM_011509365.1:c.3209G>T	XP_011507667.1:p.Ser1070Ile
XM_011509366.1:c.3209G>T	XP_011507668.1:p.Ser1070Ile
XM_011509367.1:c.3209G>T	XP_011507669.1:p.Ser1070Ile
XM_011509368.1:c.2627G>T	XP_011507670.1:p.Ser876Ile
XM_011509369.1:c.1652G>T	XP_011507671.1:p.Ser551Ile
XM_011509365.2:c.3209G>T	XP_011507667.1:p.Ser1070Ile
XM_011509369.2:c.1652G>T	XP_011507671.1:p.Ser551Ile
XM_017000851.1:c.2366G>T	XP_016856340.1:p.Ser789Ile
XM_017000852.1:c.3344G>T	XP_016856341.1:p.Ser1115Ile
NM_201253.3:c.3209G>T MANE Select	NP_957705.1:p.Ser1070Ile
NM_001193640.2:c.2873G>T	NP_001180569.1:p.Ser958Ile
NM_001257965.2:c.3137G>T	NP_001244894.1:p.Ser1046Ile
NR_047563.2:n.3162G>T
NR_047564.2:n.3370G>T
NM_001257966.2:c.2129-528G>T	NP_001244895.1:n.2129-528G>T