Canonical Allele Identifier: CA2652201165

Gene: VSX1

Linked Data

• gnomAD v4: 20-25077635-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077635C>A , CM000682.2:g.25077635C>A	GRCh38
NC_000020.10:g.25058271C>A , CM000682.1:g.25058271C>A	GRCh37
NC_000020.9:g.25006271C>A	NCBI36
NG_008101.1:g.9497G>T
NG_008101.2:g.9497G>T
NG_008101.3:g.9547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.808+50G>T MANE Select	ENSP00000365899.3:n.808+50G>T
ENST00000376709.8:c.808+50G>T	ENSP00000365899.3:n.808+50G>T
ENST00000409285.6:c.808+50G>T	ENSP00000386612.2:n.808+50G>T
ENST00000409958.6:c.627+1194G>T	ENSP00000387069.2:n.627+1194G>T
ENST00000429762.7:c.808+50G>T	ENSP00000401690.3:n.808+50G>T
ENST00000444511.6:c.627+1194G>T	ENSP00000387720.2:n.627+1194G>T
ENST00000557285.1:n.315+50G>T
NM_001256271.1:c.627+1194G>T	NP_001243200.1:n.627+1194G>T
NM_001256272.1:c.808+50G>T	NP_001243201.1:n.808+50G>T
NM_014588.5:c.808+50G>T	NP_055403.2:n.808+50G>T
NR_045948.1:n.1091+50G>T
NR_045951.1:n.910+1194G>T
XM_017027837.1:c.808+50G>T	XP_016883326.1:n.808+50G>T
XM_017027838.1:c.627+1194G>T	XP_016883327.1:n.627+1194G>T
NM_014588.6:c.808+50G>T MANE Select	NP_055403.2:n.808+50G>T
NR_165181.1:n.818+50G>T
NR_165182.1:n.368+50G>T
NR_165183.1:n.368+50G>T
NR_165184.1:n.368+50G>T
NM_001256271.2:c.627+1194G>T	NP_001243200.1:n.627+1194G>T
NM_001256272.2:c.808+50G>T	NP_001243201.1:n.808+50G>T
NM_001378633.1:c.115+50G>T	NP_001365562.1:n.115+50G>T
NR_045948.2:n.853+50G>T
NR_045951.2:n.672+1194G>T
NR_165181.2:n.700+50G>T
NR_165182.2:n.368+50G>T
NR_165183.2:n.368+50G>T