Canonical Allele Identifier: CA344085295

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2167543
• ClinVar RCV Id: RCV003086496
• gnomAD v4: 1-197328569-C-T
• MyVariant Identifiers: chr1:g.197297699C>T (hg19) ; chr1:g.197328569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328569C>T , CM000663.2:g.197328569C>T	GRCh38
NC_000001.10:g.197297699C>T , CM000663.1:g.197297699C>T	GRCh37
NC_000001.9:g.195564322C>T	NCBI36
NG_008483.1:g.65292C>T
NG_008483.2:g.132108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.218C>T MANE Select	ENSP00000356370.3:p.Pro73Leu
ENST00000638467.1:c.218C>T	ENSP00000491102.1:p.Pro73Leu
ENST00000367399.6:c.218C>T	ENSP00000356369.2:p.Pro73Leu
ENST00000367400.7:c.218C>T	ENSP00000356370.3:p.Pro73Leu
ENST00000475659.1:n.355C>T
ENST00000484075.5:c.218C>T	ENSP00000433932.1:p.Pro73Leu
ENST00000535699.5:c.11C>T	ENSP00000438786.1:p.Pro4Leu
ENST00000538660.5:c.218C>T	ENSP00000438091.1:p.Pro73Leu
NM_001193640.1:c.218C>T	NP_001180569.1:p.Pro73Leu
NM_001257965.1:c.11C>T	NP_001244894.1:p.Pro4Leu
NM_001257966.1:c.218C>T	NP_001244895.1:p.Pro73Leu
NM_201253.2:c.218C>T	NP_957705.1:p.Pro73Leu
NR_047563.1:n.427C>T
NR_047564.1:n.427C>T
XM_011509365.1:c.218C>T	XP_011507667.1:p.Pro73Leu
XM_011509366.1:c.218C>T	XP_011507668.1:p.Pro73Leu
XM_011509367.1:c.218C>T	XP_011507669.1:p.Pro73Leu
XM_011509368.1:c.71-15712C>T	XP_011507670.1:n.71-15712C>T
XM_011509365.2:c.218C>T	XP_011507667.1:p.Pro73Leu
XM_017000851.1:c.-486C>T	XP_016856340.1:n.-486C>T
XM_017000852.1:c.218C>T	XP_016856341.1:p.Pro73Leu
NM_201253.3:c.218C>T MANE Select	NP_957705.1:p.Pro73Leu
NM_001193640.2:c.218C>T	NP_001180569.1:p.Pro73Leu
NM_001257965.2:c.11C>T	NP_001244894.1:p.Pro4Leu
NR_047563.2:n.379C>T
NR_047564.2:n.379C>T
NM_001257966.2:c.218C>T	NP_001244895.1:p.Pro73Leu