Canonical Allele Identifier: CA408435047

Gene: VSX1

Linked Data

• COSMIC: COSM6043505 ; COSM6043506
• MyVariant Identifiers: chr20:g.25059463A>G (hg19) ; chr20:g.25078827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078827A>G , CM000682.2:g.25078827A>G	GRCh38
NC_000020.10:g.25059463A>G , CM000682.1:g.25059463A>G	GRCh37
NC_000020.9:g.25007463A>G	NCBI36
NG_008101.1:g.8305T>C
NG_008101.2:g.8305T>C
NG_008101.3:g.8355T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.627+2T>C MANE Select	ENSP00000365899.3:n.627+2T>C
ENST00000376707.4:c.629T>C	ENSP00000365897.3:p.Val210Ala
ENST00000376709.8:c.627+2T>C	ENSP00000365899.3:n.627+2T>C
ENST00000409285.6:c.627+2T>C	ENSP00000386612.2:n.627+2T>C
ENST00000409958.6:c.627+2T>C	ENSP00000387069.2:n.627+2T>C
ENST00000429762.7:c.627+2T>C	ENSP00000401690.3:n.627+2T>C
ENST00000444511.6:c.627+2T>C	ENSP00000387720.2:n.627+2T>C
NM_001256271.1:c.627+2T>C	NP_001243200.1:n.627+2T>C
NM_001256272.1:c.627+2T>C	NP_001243201.1:n.627+2T>C
NM_014588.5:c.627+2T>C	NP_055403.2:n.627+2T>C
NM_199425.2:c.629T>C	NP_955457.1:p.Val210Ala
NR_045948.1:n.910+2T>C
NR_045951.1:n.910+2T>C
XM_017027837.1:c.627+2T>C	XP_016883326.1:n.627+2T>C
XM_017027838.1:c.627+2T>C	XP_016883327.1:n.627+2T>C
NM_014588.6:c.627+2T>C MANE Select	NP_055403.2:n.627+2T>C
NR_165181.1:n.385+2T>C
NM_001256271.2:c.627+2T>C	NP_001243200.1:n.627+2T>C
NM_001256272.2:c.627+2T>C	NP_001243201.1:n.627+2T>C
NM_199425.3:c.629T>C	NP_955457.1:p.Val210Ala
NR_045948.2:n.672+2T>C
NR_045951.2:n.672+2T>C
NR_165181.2:n.267+2T>C