Canonical Allele Identifier: CA313663615

Gene: VSX1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25079464A>G , CM000682.2:g.25079464A>G	GRCh38
NC_000020.10:g.25060100A>G , CM000682.1:g.25060100A>G	GRCh37
NC_000020.9:g.25008100A>G	NCBI36
NG_008101.1:g.7668T>C
NG_008101.2:g.7668T>C
NG_008101.3:g.7718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.475T>C MANE Select	ENSP00000365899.3:p.Leu159=
ENST00000376707.4:c.475T>C	ENSP00000365897.3:p.Leu159=
ENST00000376709.8:c.475T>C	ENSP00000365899.3:p.Leu159=
ENST00000409285.6:c.475T>C	ENSP00000386612.2:p.Leu159=
ENST00000409958.6:c.475T>C	ENSP00000387069.2:p.Leu159=
ENST00000429762.7:c.475T>C	ENSP00000401690.3:p.Leu159=
ENST00000444511.6:c.475T>C	ENSP00000387720.2:p.Leu159=
NM_001256271.1:c.475T>C	NP_001243200.1:p.Leu159=
NM_001256272.1:c.475T>C	NP_001243201.1:p.Leu159=
NM_014588.5:c.475T>C	NP_055403.2:p.Leu159=
NM_199425.2:c.475T>C	NP_955457.1:p.Leu159=
NR_045948.1:n.758T>C
NR_045951.1:n.758T>C
XM_017027837.1:c.475T>C	XP_016883326.1:p.Leu159=
XM_017027838.1:c.475T>C	XP_016883327.1:p.Leu159=
NM_014588.6:c.475T>C MANE Select	NP_055403.2:p.Leu159=
NR_165181.1:n.233T>C
NM_001256271.2:c.475T>C	NP_001243200.1:p.Leu159=
NM_001256272.2:c.475T>C	NP_001243201.1:p.Leu159=
NM_199425.3:c.475T>C	NP_955457.1:p.Leu159=
NR_045948.2:n.520T>C
NR_045951.2:n.520T>C
NR_165181.2:n.115T>C