Canonical Allele Identifier: CA344035531

Gene: CRB1

Linked Data

• dbSNP Id: rs1373409566
• gnomAD v2: 1-197446858-T-C
• gnomAD v4: 1-197477728-T-C
• MyVariant Identifiers: chr1:g.197446858T>C (hg19) ; chr1:g.197477728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477728T>C , CM000663.2:g.197477728T>C	GRCh38
NC_000001.10:g.197446858T>C , CM000663.1:g.197446858T>C	GRCh37
NC_000001.9:g.195713481T>C	NCBI36
NG_008483.1:g.214451T>C
NG_008483.2:g.281267T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.4070T>C MANE Select	ENSP00000356370.3:p.Leu1357Pro
ENST00000367399.6:c.3734T>C	ENSP00000356369.2:p.Leu1245Pro
ENST00000367400.7:c.4070T>C	ENSP00000356370.3:p.Leu1357Pro
ENST00000448952.1:c.304T>C	ENSP00000395407.1:n.304T>C
ENST00000484075.5:c.*181T>C	ENSP00000433932.1:n.*181T>C
ENST00000535699.5:c.3998T>C	ENSP00000438786.1:p.Leu1333Pro
ENST00000538660.5:c.2462T>C	ENSP00000438091.1:p.Leu821Pro
NM_001193640.1:c.3734T>C	NP_001180569.1:p.Leu1245Pro
NM_001257965.1:c.3998T>C	NP_001244894.1:p.Leu1333Pro
NM_001257966.1:c.2462T>C	NP_001244895.1:p.Leu821Pro
NM_201253.2:c.4070T>C	NP_957705.1:p.Leu1357Pro
NR_047563.1:n.4071T>C
NR_047564.1:n.4521T>C
XM_011509366.1:c.*175T>C	XP_011507668.1:n.*175T>C
XM_011509367.1:c.*49T>C	XP_011507669.1:n.*49T>C
XM_011509368.1:c.3488T>C	XP_011507670.1:p.Leu1163Pro
XM_011509369.1:c.2513T>C	XP_011507671.1:p.Leu838Pro
XM_011509369.2:c.2513T>C	XP_011507671.1:p.Leu838Pro
XM_017000851.1:c.3227T>C	XP_016856340.1:p.Leu1076Pro
XM_017000852.1:c.4205T>C	XP_016856341.1:p.Leu1402Pro
NM_201253.3:c.4070T>C MANE Select	NP_957705.1:p.Leu1357Pro
NM_001193640.2:c.3734T>C	NP_001180569.1:p.Leu1245Pro
NM_001257965.2:c.3998T>C	NP_001244894.1:p.Leu1333Pro
NR_047563.2:n.4023T>C
NR_047564.2:n.4473T>C
NM_001257966.2:c.2462T>C	NP_001244895.1:p.Leu821Pro