Canonical Allele Identifier: CA249917

Gene: ST7 ST7-AS2

Linked Data

• ClinVar Variation Id: 183291
• ClinVar RCV Id: RCV000162112
• dbSNP Id: rs550492993
• gnomAD v4: 7-117130530-T-G
• MyVariant Identifiers: chr7:g.116770584T>G (hg19) ; chr7:g.117130530T>G (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117130530T>G , CM000669.2:g.117130530T>G	GRCh38
NC_000007.13:g.116770584T>G , CM000669.1:g.116770584T>G	GRCh37
NC_000007.12:g.116557820T>G	NCBI36
NG_047088.1:g.182204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323984.8:c.489T>G (ST7) MANE Select	ENSP00000325673.3:p.Tyr163Ter
ENST00000265437.9:c.489T>G (ST7)	ENSP00000265437.5:p.Tyr163Ter
ENST00000323984.7:c.489T>G (ST7)	ENSP00000325673.3:p.Tyr163Ter
ENST00000393443.5:c.339T>G (ST7)	ENSP00000377089.1:p.Tyr113Ter
ENST00000393444.7:c.360T>G (ST7)	ENSP00000377090.3:p.Tyr120Ter
ENST00000393446.6:c.489T>G (ST7)	ENSP00000377092.2:p.Tyr163Ter
ENST00000393447.8:c.360T>G (ST7)	ENSP00000377093.4:p.Tyr120Ter
ENST00000393449.5:c.489T>G (ST7)	ENSP00000377095.1:p.Tyr163Ter
ENST00000393451.7:c.489T>G (ST7)	ENSP00000377097.3:p.Tyr163Ter
ENST00000420755.5:c.333T>G (ST7)	ENSP00000388698.1:p.Tyr111Ter
ENST00000422922.5:c.351T>G (ST7)	ENSP00000414031.1:p.Tyr117Ter
ENST00000432298.5:c.351T>G (ST7)	ENSP00000411118.1:p.Tyr117Ter
ENST00000438863.5:c.*247T>G (ST7)	ENSP00000390830.1:n.*247T>G
ENST00000443979.5:c.152-40332T>G (ST7)	ENSP00000392876.1:n.152-40332T>G
ENST00000446490.5:c.489T>G (ST7)	ENSP00000402934.1:p.Tyr163Ter
ENST00000465133.5:c.360T>G (ST7)	ENSP00000420052.1:p.Tyr120Ter
ENST00000487459.5:n.784T>G (ST7)
ENST00000489293.5:n.130T>G (ST7)
ENST00000490039.1:c.333T>G (ST7)	ENSP00000419516.1:p.Tyr111Ter
NM_018412.3:c.489T>G (ST7)	NP_060882.2:p.Tyr163Ter
NM_021908.2:c.489T>G (ST7)	NP_068708.1:p.Tyr163Ter
NR_002331.3:n.442A>C (ST7-AS2)
NR_109981.1:n.285-12077A>C (ST7-AS2)
NM_001369598.1:c.489T>G (ST7) MANE Select	NP_001356527.1:p.Tyr163Ter
NM_001369599.1:c.360T>G (ST7)	NP_001356528.1:p.Tyr120Ter
NM_001369600.1:c.360T>G (ST7)	NP_001356529.1:p.Tyr120Ter
NM_001369601.1:c.489T>G (ST7)	NP_001356530.1:p.Tyr163Ter
NM_001369602.1:c.351T>G (ST7)	NP_001356531.1:p.Tyr117Ter
NM_001369603.1:c.351T>G (ST7)	NP_001356532.1:p.Tyr117Ter
NM_001369604.1:c.489T>G (ST7)	NP_001356533.1:p.Tyr163Ter
NM_001369606.1:c.339T>G (ST7)	NP_001356535.1:p.Tyr113Ter
NM_001369607.1:c.339T>G (ST7)	NP_001356536.1:p.Tyr113Ter
NM_018412.4:c.489T>G (ST7)	NP_060882.2:p.Tyr163Ter
NM_021908.3:c.489T>G (ST7)	NP_068708.1:p.Tyr163Ter
NR_161418.1:n.750T>G (ST7)
NR_161419.1:n.750T>G (ST7)
NR_161420.1:n.529T>G (ST7)
NR_161421.1:n.529T>G (ST7)
NR_161422.1:n.446T>G (ST7)
NR_161423.1:n.446T>G (ST7)