Canonical Allele Identifier: CA10581631

Gene: CRB1

Linked Data

• ClinVar Variation Id: 236479
• ClinVar RCV Id: RCV000225597 ; RCV001854803
• dbSNP Id: rs878853371
• gnomAD v4: 1-197434732-C-T
• MyVariant Identifiers: chr1:g.197403862C>T (hg19) ; chr1:g.197434732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434732C>T , CM000663.2:g.197434732C>T	GRCh38
NC_000001.10:g.197403862C>T , CM000663.1:g.197403862C>T	GRCh37
NC_000001.9:g.195670485C>T	NCBI36
NG_008483.1:g.171455C>T
NG_008483.2:g.238271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2869C>T MANE Select	ENSP00000356370.3:p.Gln957Ter
ENST00000638467.1:c.2869C>T	ENSP00000491102.1:p.Gln957Ter
ENST00000681519.1:c.1750C>T	ENSP00000505267.1:p.Gln584Ter
ENST00000367397.1:c.1012C>T	ENSP00000356367.1:p.Gln338Ter
ENST00000367399.6:c.2533C>T	ENSP00000356369.2:p.Gln845Ter
ENST00000367400.7:c.2869C>T	ENSP00000356370.3:p.Gln957Ter
ENST00000484075.5:c.2869C>T	ENSP00000433932.1:p.Gln957Ter
ENST00000535699.5:c.2797C>T	ENSP00000438786.1:p.Gln933Ter
ENST00000538660.5:c.2129-868C>T	ENSP00000438091.1:n.2129-868C>T
NM_001193640.1:c.2533C>T	NP_001180569.1:p.Gln845Ter
NM_001257965.1:c.2797C>T	NP_001244894.1:p.Gln933Ter
NM_001257966.1:c.2129-868C>T	NP_001244895.1:n.2129-868C>T
NM_201253.2:c.2869C>T	NP_957705.1:p.Gln957Ter
NR_047563.1:n.2870C>T
NR_047564.1:n.3078C>T
XM_011509365.1:c.2869C>T	XP_011507667.1:p.Gln957Ter
XM_011509366.1:c.2869C>T	XP_011507668.1:p.Gln957Ter
XM_011509367.1:c.2869C>T	XP_011507669.1:p.Gln957Ter
XM_011509368.1:c.2287C>T	XP_011507670.1:p.Gln763Ter
XM_011509369.1:c.1312C>T	XP_011507671.1:p.Gln438Ter
XM_011509365.2:c.2869C>T	XP_011507667.1:p.Gln957Ter
XM_011509369.2:c.1312C>T	XP_011507671.1:p.Gln438Ter
XM_017000851.1:c.2026C>T	XP_016856340.1:p.Gln676Ter
XM_017000852.1:c.3004C>T	XP_016856341.1:p.Gln1002Ter
NM_201253.3:c.2869C>T MANE Select	NP_957705.1:p.Gln957Ter
NM_001193640.2:c.2533C>T	NP_001180569.1:p.Gln845Ter
NM_001257965.2:c.2797C>T	NP_001244894.1:p.Gln933Ter
NR_047563.2:n.2822C>T
NR_047564.2:n.3030C>T
NM_001257966.2:c.2129-868C>T	NP_001244895.1:n.2129-868C>T