Canonical Allele Identifier: CA344031436

Gene: CRB1

Linked Data

• dbSNP Id: rs1416323976
• gnomAD v2: 1-197390511-A-T
• gnomAD v4: 1-197421381-A-T
• MyVariant Identifiers: chr1:g.197390511A>T (hg19) ; chr1:g.197421381A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421381A>T , CM000663.2:g.197421381A>T	GRCh38
NC_000001.10:g.197390511A>T , CM000663.1:g.197390511A>T	GRCh37
NC_000001.9:g.195657134A>T	NCBI36
NG_008483.1:g.158104A>T
NG_008483.2:g.224920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1553A>T MANE Select	ENSP00000356370.3:p.Gln518Leu
ENST00000638467.1:c.1553A>T	ENSP00000491102.1:p.Gln518Leu
ENST00000681519.1:c.434A>T	ENSP00000505267.1:p.Gln145Leu
ENST00000367397.1:c.-305A>T	ENSP00000356367.1:n.-305A>T
ENST00000367399.6:c.1217A>T	ENSP00000356369.2:p.Gln406Leu
ENST00000367400.7:c.1553A>T	ENSP00000356370.3:p.Gln518Leu
ENST00000476483.1:n.513A>T
ENST00000484075.5:c.1553A>T	ENSP00000433932.1:p.Gln518Leu
ENST00000535699.5:c.1346A>T	ENSP00000438786.1:p.Gln449Leu
ENST00000538660.5:c.1553A>T	ENSP00000438091.1:p.Gln518Leu
NM_001193640.1:c.1217A>T	NP_001180569.1:p.Gln406Leu
NM_001257965.1:c.1346A>T	NP_001244894.1:p.Gln449Leu
NM_001257966.1:c.1553A>T	NP_001244895.1:p.Gln518Leu
NM_201253.2:c.1553A>T	NP_957705.1:p.Gln518Leu
NR_047563.1:n.1762A>T
NR_047564.1:n.1762A>T
XM_011509365.1:c.1553A>T	XP_011507667.1:p.Gln518Leu
XM_011509366.1:c.1553A>T	XP_011507668.1:p.Gln518Leu
XM_011509367.1:c.1553A>T	XP_011507669.1:p.Gln518Leu
XM_011509368.1:c.971A>T	XP_011507670.1:p.Gln324Leu
XM_011509369.1:c.-5A>T	XP_011507671.1:n.-5A>T
XM_011509365.2:c.1553A>T	XP_011507667.1:p.Gln518Leu
XM_011509369.2:c.-5A>T	XP_011507671.1:n.-5A>T
XM_017000851.1:c.710A>T	XP_016856340.1:p.Gln237Leu
XM_017000852.1:c.1553A>T	XP_016856341.1:p.Gln518Leu
NM_201253.3:c.1553A>T MANE Select	NP_957705.1:p.Gln518Leu
NM_001193640.2:c.1217A>T	NP_001180569.1:p.Gln406Leu
NM_001257965.2:c.1346A>T	NP_001244894.1:p.Gln449Leu
NR_047563.2:n.1714A>T
NR_047564.2:n.1714A>T
NM_001257966.2:c.1553A>T	NP_001244895.1:p.Gln518Leu