Canonical Allele Identifier: CA344035510

Gene: CRB1

Linked Data

• dbSNP Id: rs200469148
• gnomAD v3: 1-197477718-G-T
• gnomAD v4: 1-197477718-G-T
• MyVariant Identifiers: chr1:g.197446848G>T (hg19) ; chr1:g.197477718G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477718G>T , CM000663.2:g.197477718G>T	GRCh38
NC_000001.10:g.197446848G>T , CM000663.1:g.197446848G>T	GRCh37
NC_000001.9:g.195713471G>T	NCBI36
NG_008483.1:g.214441G>T
NG_008483.2:g.281257G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4060G>T MANE Select	ENSP00000356370.3:p.Ala1354Ser
ENST00000367399.6:c.3724G>T	ENSP00000356369.2:p.Ala1242Ser
ENST00000367400.7:c.4060G>T	ENSP00000356370.3:p.Ala1354Ser
ENST00000448952.1:c.294G>T	ENSP00000395407.1:n.294G>T
ENST00000484075.5:c.*171G>T	ENSP00000433932.1:n.*171G>T
ENST00000535699.5:c.3988G>T	ENSP00000438786.1:p.Ala1330Ser
ENST00000538660.5:c.2452G>T	ENSP00000438091.1:p.Ala818Ser
NM_001193640.1:c.3724G>T	NP_001180569.1:p.Ala1242Ser
NM_001257965.1:c.3988G>T	NP_001244894.1:p.Ala1330Ser
NM_001257966.1:c.2452G>T	NP_001244895.1:p.Ala818Ser
NM_201253.2:c.4060G>T	NP_957705.1:p.Ala1354Ser
NR_047563.1:n.4061G>T
NR_047564.1:n.4511G>T
XM_011509366.1:c.*165G>T	XP_011507668.1:n.*165G>T
XM_011509367.1:c.*39G>T	XP_011507669.1:n.*39G>T
XM_011509368.1:c.3478G>T	XP_011507670.1:p.Ala1160Ser
XM_011509369.1:c.2503G>T	XP_011507671.1:p.Ala835Ser
XM_011509369.2:c.2503G>T	XP_011507671.1:p.Ala835Ser
XM_017000851.1:c.3217G>T	XP_016856340.1:p.Ala1073Ser
XM_017000852.1:c.4195G>T	XP_016856341.1:p.Ala1399Ser
NM_201253.3:c.4060G>T MANE Select	NP_957705.1:p.Ala1354Ser
NM_001193640.2:c.3724G>T	NP_001180569.1:p.Ala1242Ser
NM_001257965.2:c.3988G>T	NP_001244894.1:p.Ala1330Ser
NR_047563.2:n.4013G>T
NR_047564.2:n.4463G>T
NM_001257966.2:c.2452G>T	NP_001244895.1:p.Ala818Ser