Canonical Allele Identifier: CA2356695842
Community Standard Title: NM_014588.6(VSX1):c.766G= (p.Ala256=)
Gene: VSX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25077727C= , CM000682.2:g.25077727C= GRCh38
NC_000020.10:g.25058363C= , CM000682.1:g.25058363C= GRCh37
NC_000020.9:g.25006363C= NCBI36
NG_008101.1:g.9405G=
NG_008101.2:g.9405G=
NG_008101.3:g.9455G=

Transcript Alleles

HGVS Amino-acid Change
NM_014588.6:c.766G= MANE Select NP_055403.2:p.Ala256=
ENST00000376709.9:c.766G= MANE Select ENSP00000365899.3:p.Ala256=
NM_001256271.1:c.627+1102G= NP_001243200.1:n.627+1102G=
NM_001256271.2:c.627+1102G= NP_001243200.1:n.627+1102G=
NM_001256272.1:c.766G= NP_001243201.1:p.Ala256=
NM_001256272.2:c.766G= NP_001243201.1:p.Ala256=
NM_001378633.1:c.73G= NP_001365562.1:p.Ala25=
NM_014588.5:c.766G= NP_055403.2:p.Ala256=
NR_045948.1:n.1049G=
NR_045948.2:n.811G=
NR_045951.1:n.910+1102G=
NR_045951.2:n.672+1102G=
NR_165181.1:n.776G=
NR_165181.2:n.658G=
NR_165182.1:n.326G=
NR_165182.2:n.326G=
NR_165183.1:n.326G=
NR_165183.2:n.326G=
NR_165184.1:n.326G=
ENST00000376709.8:c.766G= ENSP00000365899.3:p.Ala256=
ENST00000409285.6:c.766G= ENSP00000386612.2:p.Ala256=
ENST00000409958.6:c.627+1102G= ENSP00000387069.2:n.627+1102G=
ENST00000429762.7:c.766G= ENSP00000401690.3:p.Ala256=
ENST00000444511.6:c.627+1102G= ENSP00000387720.2:n.627+1102G=
ENST00000557285.1:n.273G=
XM_017027837.1:c.766G= XP_016883326.1:p.Ala256=
XM_017027838.1:c.627+1102G= XP_016883327.1:n.627+1102G=