Canonical Allele Identifier: CA408434741

Gene: VSX1

Linked Data

• MyVariant Identifiers: chr20:g.25059372C>A (hg19) ; chr20:g.25078736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078736C>A , CM000682.2:g.25078736C>A	GRCh38
NC_000020.10:g.25059372C>A , CM000682.1:g.25059372C>A	GRCh37
NC_000020.9:g.25007372C>A	NCBI36
NG_008101.1:g.8396G>T
NG_008101.2:g.8396G>T
NG_008101.3:g.8446G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.627+93G>T MANE Select	ENSP00000365899.3:n.627+93G>T
ENST00000376707.4:c.720G>T	ENSP00000365897.3:p.Ter240Tyr
ENST00000376709.8:c.627+93G>T	ENSP00000365899.3:n.627+93G>T
ENST00000409285.6:c.627+93G>T	ENSP00000386612.2:n.627+93G>T
ENST00000409958.6:c.627+93G>T	ENSP00000387069.2:n.627+93G>T
ENST00000429762.7:c.627+93G>T	ENSP00000401690.3:n.627+93G>T
ENST00000444511.6:c.627+93G>T	ENSP00000387720.2:n.627+93G>T
NM_001256271.1:c.627+93G>T	NP_001243200.1:n.627+93G>T
NM_001256272.1:c.627+93G>T	NP_001243201.1:n.627+93G>T
NM_014588.5:c.627+93G>T	NP_055403.2:n.627+93G>T
NM_199425.2:c.720G>T	NP_955457.1:p.Ter240Tyr
NR_045948.1:n.910+93G>T
NR_045951.1:n.910+93G>T
XM_017027837.1:c.627+93G>T	XP_016883326.1:n.627+93G>T
XM_017027838.1:c.627+93G>T	XP_016883327.1:n.627+93G>T
NM_014588.6:c.627+93G>T MANE Select	NP_055403.2:n.627+93G>T
NR_165181.1:n.385+93G>T
NM_001256271.2:c.627+93G>T	NP_001243200.1:n.627+93G>T
NM_001256272.2:c.627+93G>T	NP_001243201.1:n.627+93G>T
NM_199425.3:c.720G>T	NP_955457.1:p.Ter240Tyr
NR_045948.2:n.672+93G>T
NR_045951.2:n.672+93G>T
NR_165181.2:n.267+93G>T