Canonical Allele Identifier: CA2356697904
Community Standard Title: NM_014588.6(VSX1):c.50T= (p.Leu17=)
Gene: VSX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25082047A= , CM000682.2:g.25082047A= GRCh38
NC_000020.10:g.25062683A= , CM000682.1:g.25062683A= GRCh37
NC_000020.9:g.25010683A= NCBI36
NG_008101.1:g.5085T=
NG_008101.2:g.5085T=
NG_008101.3:g.5135T=

Transcript Alleles

HGVS Amino-acid Change
NM_014588.6:c.50T= MANE Select NP_055403.2:p.Leu17=
ENST00000376709.9:c.50T= MANE Select ENSP00000365899.3:p.Leu17=
NM_001256271.1:c.50T= NP_001243200.1:p.Leu17=
NM_001256271.2:c.50T= NP_001243200.1:p.Leu17=
NM_001256272.1:c.50T= NP_001243201.1:p.Leu17=
NM_001256272.2:c.50T= NP_001243201.1:p.Leu17=
NM_014588.5:c.50T= NP_055403.2:p.Leu17=
NM_199425.2:c.50T= NP_955457.1:p.Leu17=
NM_199425.3:c.50T= NP_955457.1:p.Leu17=
NR_045948.1:n.333T=
NR_045948.2:n.95T=
NR_045951.1:n.333T=
NR_045951.2:n.95T=
ENST00000376707.4:c.50T= ENSP00000365897.3:p.Leu17=
ENST00000376709.8:c.50T= ENSP00000365899.3:p.Leu17=
ENST00000409285.6:c.50T= ENSP00000386612.2:p.Leu17=
ENST00000409958.6:c.50T= ENSP00000387069.2:p.Leu17=
ENST00000429762.7:c.50T= ENSP00000401690.3:p.Leu17=
ENST00000444511.6:c.50T= ENSP00000387720.2:p.Leu17=
XM_017027837.1:c.50T= XP_016883326.1:p.Leu17=
XM_017027838.1:c.50T= XP_016883327.1:p.Leu17=