Canonical Allele Identifier: CA1016376268

Gene: VSX1

Linked Data

• dbSNP Id: rs2089565568
• gnomAD v3: 20-25078698-A-G
• gnomAD v4: 20-25078698-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078698A>G , CM000682.2:g.25078698A>G	GRCh38
NC_000020.10:g.25059334A>G , CM000682.1:g.25059334A>G	GRCh37
NC_000020.9:g.25007334A>G	NCBI36
NG_008101.1:g.8434T>C
NG_008101.2:g.8434T>C
NG_008101.3:g.8484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.627+131T>C MANE Select	ENSP00000365899.3:n.627+131T>C
ENST00000376707.4:c.*38T>C	ENSP00000365897.3:n.*38T>C
ENST00000376709.8:c.627+131T>C	ENSP00000365899.3:n.627+131T>C
ENST00000409285.6:c.627+131T>C	ENSP00000386612.2:n.627+131T>C
ENST00000409958.6:c.627+131T>C	ENSP00000387069.2:n.627+131T>C
ENST00000429762.7:c.627+131T>C	ENSP00000401690.3:n.627+131T>C
ENST00000444511.6:c.627+131T>C	ENSP00000387720.2:n.627+131T>C
NM_001256271.1:c.627+131T>C	NP_001243200.1:n.627+131T>C
NM_001256272.1:c.627+131T>C	NP_001243201.1:n.627+131T>C
NM_014588.5:c.627+131T>C	NP_055403.2:n.627+131T>C
NM_199425.2:c.*38T>C	NP_955457.1:n.*38T>C
NR_045948.1:n.910+131T>C
NR_045951.1:n.910+131T>C
XM_017027837.1:c.627+131T>C	XP_016883326.1:n.627+131T>C
XM_017027838.1:c.627+131T>C	XP_016883327.1:n.627+131T>C
NM_014588.6:c.627+131T>C MANE Select	NP_055403.2:n.627+131T>C
NR_165181.1:n.385+131T>C
NM_001256271.2:c.627+131T>C	NP_001243200.1:n.627+131T>C
NM_001256272.2:c.627+131T>C	NP_001243201.1:n.627+131T>C
NM_199425.3:c.*38T>C	NP_955457.1:n.*38T>C
NR_045948.2:n.672+131T>C
NR_045951.2:n.672+131T>C
NR_165181.2:n.267+131T>C