Canonical Allele Identifier: CA658682655

Gene: SACS

Linked Data

• ClinVar Variation Id: 424657
• ClinVar RCV Id: RCV000515975
• PubMed: PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.[23354972G>A;23354978C>A] , CM000675.2:g.[23354972G>A;23354978C>A]	GRCh38
NC_000013.10:g.[23929111G>A;23929117C>A] , CM000675.1:g.[23929111G>A;23929117C>A]	GRCh37
NC_000013.9:g.[22827111G>A;22827117C>A]	NCBI36
NG_012342.1:g.[83725G>T;83731C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.[1634G>T;1640C>T]	ENSP00000508399.1:p.[Trp545Leu;Pro547Leu]...
ENST00000682944.1:c.[1634G>T;1640C>T]	ENSP00000507173.1:p.[Trp545Leu;Pro547Leu]...
ENST00000683154.1:n.[1772G>T;1778C>T]
ENST00000683210.1:c.[1634G>T;1640C>T]	ENSP00000506739.1:p.[Trp545Leu;Pro547Leu]...
ENST00000683270.1:c.[1625G>T;1631C>T]	ENSP00000507624.1:p.[Trp542Leu;Pro544Leu]...
ENST00000683367.1:c.[1625G>T;1631C>T]	ENSP00000507780.1:p.[Trp542Leu;Pro544Leu]...
ENST00000683489.1:c.[1634G>T;1640C>T]	ENSP00000508403.1:p.[Trp545Leu;Pro547Leu]...
ENST00000683680.1:c.[1634G>T;1640C>T]	ENSP00000507223.1:p.[Trp545Leu;Pro547Leu]...
ENST00000684163.1:c.[1625G>T;1631C>T]	ENSP00000508262.1:p.[Trp542Leu;Pro544Leu]...
ENST00000684196.1:n.[3991G>T;3997C>T]
ENST00000684325.1:c.[1634G>T;1640C>T]	ENSP00000508121.1:p.[Trp545Leu;Pro547Leu]...
ENST00000684385.1:c.[1634G>T;1640C>T]	ENSP00000507855.1:p.[Trp545Leu;Pro547Leu]...
ENST00000684497.1:c.[1634G>T;1640C>T]	ENSP00000507057.1:p.[Trp545Leu;Pro547Leu]...
ENST00000382292.9:c.[1634G>T;1640C>T] MANE Select	ENSP00000371729.3:p.[Trp545Leu;Pro547Leu]...
ENST00000423156.2:c.[1634G>T;1640C>T]	ENSP00000390925.2:p.[Trp545Leu;Pro547Leu]...
ENST00000455470.6:c.[1634G>T;1640C>T]	ENSP00000406565.2:p.[Trp545Leu;Pro547Leu]...
ENST00000382292.7:c.[1634G>T;1640C>T]	ENSP00000371729.3:p.[Trp545Leu;Pro547Leu]...
ENST00000382298.7:c.[1634G>T;1640C>T]	ENSP00000371735.3:p.[Trp545Leu;Pro547Leu]...
ENST00000402364.1:c.[-617G>T;-611C>T]	ENSP00000385844.1:n.[-617G>T;-611C>T]
ENST00000423156.1:c.[506G>T;512C>T]	ENSP00000390925.1:p.[Trp169Leu;Pro171Leu]...
ENST00000455470.5:c.[1332G>T;1338C>T]
NM_001278055.1:c.[1193G>T;1199C>T]	NP_001264984.1:p.[Trp398Leu;Pro400Leu]
NM_014363.5:c.[1634G>T;1640C>T]	NP_055178.3:p.[Trp545Leu;Pro547Leu]
XM_005266338.1:c.[1634G>T;1640C>T]	XP_005266395.1:p.[Trp545Leu;Pro547Leu]
XM_011535038.1:c.[1658G>T;1664C>T]	XP_011533340.1:p.[Trp553Leu;Pro555Leu]
XM_011535039.1:c.[1625G>T;1631C>T]	XP_011533341.1:p.[Trp542Leu;Pro544Leu]
XM_005266338.2:c.[1634G>T;1640C>T]	XP_005266395.1:p.[Trp545Leu;Pro547Leu]
XM_011535039.2:c.[1625G>T;1631C>T]	XP_011533341.1:p.[Trp542Leu;Pro544Leu]
XM_017020539.1:c.[1625G>T;1631C>T]	XP_016876028.1:p.[Trp542Leu;Pro544Leu]
XM_024449337.1:c.[1634G>T;1640C>T]	XP_024305105.1:p.[Trp545Leu;Pro547Leu]
NM_014363.6:c.[1634G>T;1640C>T] MANE Select	NP_055178.3:p.[Trp545Leu;Pro547Leu]
NM_001278055.2:c.[1193G>T;1199C>T]	NP_001264984.1:p.[Trp398Leu;Pro400Leu]