Canonical Allele Identifier: CA246659130

Gene: SACS

Linked Data

• ClinVar Variation Id: 1343993
• ClinVar RCV Id: RCV001847538 ; RCV003588773
• dbSNP Id: rs898102157
• gnomAD v2: 13-23912565-G-A
• gnomAD v4: 13-23338426-G-A
• COSMIC: COSM4876412 ; COSM4876413
• MyVariant Identifiers: chr13:g.23912565G>A (hg19) ; chr13:g.23912565_23912575delinsATGGTACACTC (hg19) ; chr13:g.23338426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338426G>A , CM000675.2:g.23338426G>A	GRCh38
NC_000013.10:g.23912565G>A , CM000675.1:g.23912565G>A	GRCh37
NC_000013.9:g.22810565G>A	NCBI36
NG_012342.1:g.100277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15359C>T	ENSP00000508399.1:n.2185+15359C>T
ENST00000682944.1:c.5477C>T	ENSP00000507173.1:p.Thr1826Met
ENST00000683210.1:c.2185+15359C>T	ENSP00000506739.1:n.2185+15359C>T
ENST00000683270.1:c.5441C>T	ENSP00000507624.1:p.Thr1814Met
ENST00000683367.1:c.2177-8942C>T	ENSP00000507780.1:n.2177-8942C>T
ENST00000683489.1:c.2291+3159C>T	ENSP00000508403.1:n.2291+3159C>T
ENST00000683680.1:c.2318+3159C>T	ENSP00000507223.1:n.2318+3159C>T
ENST00000684163.1:c.2203+8385C>T	ENSP00000508262.1:n.2203+8385C>T
ENST00000684196.1:n.4543-8942C>T
ENST00000684325.1:c.2185+15359C>T	ENSP00000508121.1:n.2185+15359C>T
ENST00000684385.1:c.2220+8385C>T	ENSP00000507855.1:n.2220+8385C>T
ENST00000684497.1:c.2185+15359C>T	ENSP00000507057.1:n.2185+15359C>T
ENST00000382292.9:c.5450C>T MANE Select	ENSP00000371729.3:p.Thr1817Met
ENST00000423156.2:c.2186-8942C>T	ENSP00000390925.2:n.2186-8942C>T
ENST00000455470.6:c.2431+3019C>T	ENSP00000406565.2:n.2431+3019C>T
ENST00000382292.7:c.5450C>T	ENSP00000371729.3:p.Thr1817Met
ENST00000382298.7:c.5450C>T	ENSP00000371735.3:p.Thr1817Met
ENST00000402364.1:c.3200C>T	ENSP00000385844.1:p.Thr1067Met
ENST00000423156.1:c.1058-8942C>T	ENSP00000390925.1:n.1058-8942C>T
ENST00000455470.5:c.2129+3019C>T
NM_001278055.1:c.5009C>T	NP_001264984.1:p.Thr1670Met
NM_014363.5:c.5450C>T	NP_055178.3:p.Thr1817Met
XM_005266338.1:c.5477C>T	XP_005266395.1:p.Thr1826Met
XM_011535038.1:c.5501C>T	XP_011533340.1:p.Thr1834Met
XM_011535039.1:c.5468C>T	XP_011533341.1:p.Thr1823Met
XM_005266338.2:c.5477C>T	XP_005266395.1:p.Thr1826Met
XM_011535039.2:c.5468C>T	XP_011533341.1:p.Thr1823Met
XM_017020539.1:c.5441C>T	XP_016876028.1:p.Thr1814Met
XM_024449337.1:c.5477C>T	XP_024305105.1:p.Thr1826Met
NM_014363.6:c.5450C>T MANE Select	NP_055178.3:p.Thr1817Met
NM_001278055.2:c.5009C>T	NP_001264984.1:p.Thr1670Met