Canonical Allele Identifier: CA2652201169

Gene: VSX1

Linked Data

• gnomAD v4: 20-25077639-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077639C>G , CM000682.2:g.25077639C>G	GRCh38
NC_000020.10:g.25058275C>G , CM000682.1:g.25058275C>G	GRCh37
NC_000020.9:g.25006275C>G	NCBI36
NG_008101.1:g.9493G>C
NG_008101.2:g.9493G>C
NG_008101.3:g.9543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.808+46G>C MANE Select	ENSP00000365899.3:n.808+46G>C
ENST00000376709.8:c.808+46G>C	ENSP00000365899.3:n.808+46G>C
ENST00000409285.6:c.808+46G>C	ENSP00000386612.2:n.808+46G>C
ENST00000409958.6:c.627+1190G>C	ENSP00000387069.2:n.627+1190G>C
ENST00000429762.7:c.808+46G>C	ENSP00000401690.3:n.808+46G>C
ENST00000444511.6:c.627+1190G>C	ENSP00000387720.2:n.627+1190G>C
ENST00000557285.1:n.315+46G>C
NM_001256271.1:c.627+1190G>C	NP_001243200.1:n.627+1190G>C
NM_001256272.1:c.808+46G>C	NP_001243201.1:n.808+46G>C
NM_014588.5:c.808+46G>C	NP_055403.2:n.808+46G>C
NR_045948.1:n.1091+46G>C
NR_045951.1:n.910+1190G>C
XM_017027837.1:c.808+46G>C	XP_016883326.1:n.808+46G>C
XM_017027838.1:c.627+1190G>C	XP_016883327.1:n.627+1190G>C
NM_014588.6:c.808+46G>C MANE Select	NP_055403.2:n.808+46G>C
NR_165181.1:n.818+46G>C
NR_165182.1:n.368+46G>C
NR_165183.1:n.368+46G>C
NR_165184.1:n.368+46G>C
NM_001256271.2:c.627+1190G>C	NP_001243200.1:n.627+1190G>C
NM_001256272.2:c.808+46G>C	NP_001243201.1:n.808+46G>C
NM_001378633.1:c.115+46G>C	NP_001365562.1:n.115+46G>C
NR_045948.2:n.853+46G>C
NR_045951.2:n.672+1190G>C
NR_165181.2:n.700+46G>C
NR_165182.2:n.368+46G>C
NR_165183.2:n.368+46G>C