Canonical Allele Identifier: CA344044449

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434868-G-T
• MyVariant Identifiers: chr1:g.197403998G>T (hg19) ; chr1:g.197434868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434868G>T , CM000663.2:g.197434868G>T	GRCh38
NC_000001.10:g.197403998G>T , CM000663.1:g.197403998G>T	GRCh37
NC_000001.9:g.195670621G>T	NCBI36
NG_008483.1:g.171591G>T
NG_008483.2:g.238407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3005G>T MANE Select	ENSP00000356370.3:p.Ser1002Ile
ENST00000638467.1:c.3005G>T	ENSP00000491102.1:p.Ser1002Ile
ENST00000681519.1:c.1886G>T	ENSP00000505267.1:p.Ser629Ile
ENST00000367397.1:c.1148G>T	ENSP00000356367.1:p.Ser383Ile
ENST00000367399.6:c.2669G>T	ENSP00000356369.2:p.Ser890Ile
ENST00000367400.7:c.3005G>T	ENSP00000356370.3:p.Ser1002Ile
ENST00000484075.5:c.3005G>T	ENSP00000433932.1:p.Ser1002Ile
ENST00000535699.5:c.2933G>T	ENSP00000438786.1:p.Ser978Ile
ENST00000538660.5:c.2129-732G>T	ENSP00000438091.1:n.2129-732G>T
NM_001193640.1:c.2669G>T	NP_001180569.1:p.Ser890Ile
NM_001257965.1:c.2933G>T	NP_001244894.1:p.Ser978Ile
NM_001257966.1:c.2129-732G>T	NP_001244895.1:n.2129-732G>T
NM_201253.2:c.3005G>T	NP_957705.1:p.Ser1002Ile
NR_047563.1:n.3006G>T
NR_047564.1:n.3214G>T
XM_011509365.1:c.3005G>T	XP_011507667.1:p.Ser1002Ile
XM_011509366.1:c.3005G>T	XP_011507668.1:p.Ser1002Ile
XM_011509367.1:c.3005G>T	XP_011507669.1:p.Ser1002Ile
XM_011509368.1:c.2423G>T	XP_011507670.1:p.Ser808Ile
XM_011509369.1:c.1448G>T	XP_011507671.1:p.Ser483Ile
XM_011509365.2:c.3005G>T	XP_011507667.1:p.Ser1002Ile
XM_011509369.2:c.1448G>T	XP_011507671.1:p.Ser483Ile
XM_017000851.1:c.2162G>T	XP_016856340.1:p.Ser721Ile
XM_017000852.1:c.3140G>T	XP_016856341.1:p.Ser1047Ile
NM_201253.3:c.3005G>T MANE Select	NP_957705.1:p.Ser1002Ile
NM_001193640.2:c.2669G>T	NP_001180569.1:p.Ser890Ile
NM_001257965.2:c.2933G>T	NP_001244894.1:p.Ser978Ile
NR_047563.2:n.2958G>T
NR_047564.2:n.3166G>T
NM_001257966.2:c.2129-732G>T	NP_001244895.1:n.2129-732G>T