Canonical Allele Identifier: CA344036016

Gene: CRB1

Linked Data

• dbSNP Id: rs1320791080
• gnomAD v2: 1-197446980-C-T
• gnomAD v3: 1-197477850-C-T
• gnomAD v4: 1-197477850-C-T
• MyVariant Identifiers: chr1:g.197446980C>T (hg19) ; chr1:g.197477850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477850C>T , CM000663.2:g.197477850C>T	GRCh38
NC_000001.10:g.197446980C>T , CM000663.1:g.197446980C>T	GRCh37
NC_000001.9:g.195713603C>T	NCBI36
NG_008483.1:g.214573C>T
NG_008483.2:g.281389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4192C>T MANE Select	ENSP00000356370.3:p.Pro1398Ser
ENST00000367399.6:c.3856C>T	ENSP00000356369.2:p.Pro1286Ser
ENST00000367400.7:c.4192C>T	ENSP00000356370.3:p.Pro1398Ser
ENST00000448952.1:c.426C>T	ENSP00000395407.1:n.426C>T
ENST00000484075.5:c.*303C>T	ENSP00000433932.1:n.*303C>T
ENST00000535699.5:c.4120C>T	ENSP00000438786.1:p.Pro1374Ser
ENST00000538660.5:c.2584C>T	ENSP00000438091.1:p.Pro862Ser
NM_001193640.1:c.3856C>T	NP_001180569.1:p.Pro1286Ser
NM_001257965.1:c.4120C>T	NP_001244894.1:p.Pro1374Ser
NM_001257966.1:c.2584C>T	NP_001244895.1:p.Pro862Ser
NM_201253.2:c.4192C>T	NP_957705.1:p.Pro1398Ser
NR_047563.1:n.4193C>T
NR_047564.1:n.4643C>T
XM_011509366.1:c.*297C>T	XP_011507668.1:n.*297C>T
XM_011509367.1:c.*171C>T	XP_011507669.1:n.*171C>T
XM_011509368.1:c.3610C>T	XP_011507670.1:p.Pro1204Ser
XM_011509369.1:c.2635C>T	XP_011507671.1:p.Pro879Ser
XM_011509369.2:c.2635C>T	XP_011507671.1:p.Pro879Ser
XM_017000851.1:c.3349C>T	XP_016856340.1:p.Pro1117Ser
XM_017000852.1:c.4327C>T	XP_016856341.1:p.Pro1443Ser
NM_201253.3:c.4192C>T MANE Select	NP_957705.1:p.Pro1398Ser
NM_001193640.2:c.3856C>T	NP_001180569.1:p.Pro1286Ser
NM_001257965.2:c.4120C>T	NP_001244894.1:p.Pro1374Ser
NR_047563.2:n.4145C>T
NR_047564.2:n.4595C>T
NM_001257966.2:c.2584C>T	NP_001244895.1:p.Pro862Ser