Canonical Allele Identifier: CA344043841

Gene: CRB1

Linked Data

• dbSNP Id: rs1665047672
• gnomAD v4: 1-197434808-C-A
• MyVariant Identifiers: chr1:g.197403938C>A (hg19) ; chr1:g.197434808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434808C>A , CM000663.2:g.197434808C>A	GRCh38
NC_000001.10:g.197403938C>A , CM000663.1:g.197403938C>A	GRCh37
NC_000001.9:g.195670561C>A	NCBI36
NG_008483.1:g.171531C>A
NG_008483.2:g.238347C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2945C>A MANE Select	ENSP00000356370.3:p.Thr982Lys
ENST00000638467.1:c.2945C>A	ENSP00000491102.1:p.Thr982Lys
ENST00000681519.1:c.1826C>A	ENSP00000505267.1:p.Thr609Lys
ENST00000367397.1:c.1088C>A	ENSP00000356367.1:p.Thr363Lys
ENST00000367399.6:c.2609C>A	ENSP00000356369.2:p.Thr870Lys
ENST00000367400.7:c.2945C>A	ENSP00000356370.3:p.Thr982Lys
ENST00000484075.5:c.2945C>A	ENSP00000433932.1:p.Thr982Lys
ENST00000535699.5:c.2873C>A	ENSP00000438786.1:p.Thr958Lys
ENST00000538660.5:c.2129-792C>A	ENSP00000438091.1:n.2129-792C>A
NM_001193640.1:c.2609C>A	NP_001180569.1:p.Thr870Lys
NM_001257965.1:c.2873C>A	NP_001244894.1:p.Thr958Lys
NM_001257966.1:c.2129-792C>A	NP_001244895.1:n.2129-792C>A
NM_201253.2:c.2945C>A	NP_957705.1:p.Thr982Lys
NR_047563.1:n.2946C>A
NR_047564.1:n.3154C>A
XM_011509365.1:c.2945C>A	XP_011507667.1:p.Thr982Lys
XM_011509366.1:c.2945C>A	XP_011507668.1:p.Thr982Lys
XM_011509367.1:c.2945C>A	XP_011507669.1:p.Thr982Lys
XM_011509368.1:c.2363C>A	XP_011507670.1:p.Thr788Lys
XM_011509369.1:c.1388C>A	XP_011507671.1:p.Thr463Lys
XM_011509365.2:c.2945C>A	XP_011507667.1:p.Thr982Lys
XM_011509369.2:c.1388C>A	XP_011507671.1:p.Thr463Lys
XM_017000851.1:c.2102C>A	XP_016856340.1:p.Thr701Lys
XM_017000852.1:c.3080C>A	XP_016856341.1:p.Thr1027Lys
NM_201253.3:c.2945C>A MANE Select	NP_957705.1:p.Thr982Lys
NM_001193640.2:c.2609C>A	NP_001180569.1:p.Thr870Lys
NM_001257965.2:c.2873C>A	NP_001244894.1:p.Thr958Lys
NR_047563.2:n.2898C>A
NR_047564.2:n.3106C>A
NM_001257966.2:c.2129-792C>A	NP_001244895.1:n.2129-792C>A