Canonical Allele Identifier: CA387539822

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915764T>A (hg19) ; chr13:g.23341625T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341625T>A , CM000675.2:g.23341625T>A	GRCh38
NC_000013.10:g.23915764T>A , CM000675.1:g.23915764T>A	GRCh37
NC_000013.9:g.22813764T>A	NCBI36
NG_012342.1:g.97078A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12160A>T	ENSP00000508399.1:n.2185+12160A>T
ENST00000682944.1:c.2278A>T	ENSP00000507173.1:p.Met760Leu
ENST00000683210.1:c.2185+12160A>T	ENSP00000506739.1:n.2185+12160A>T
ENST00000683270.1:c.2242A>T	ENSP00000507624.1:p.Met748Leu
ENST00000683367.1:c.2177-12141A>T	ENSP00000507780.1:n.2177-12141A>T
ENST00000683489.1:c.2251A>T	ENSP00000508403.1:p.Met751Leu
ENST00000683680.1:c.2278A>T	ENSP00000507223.1:p.Met760Leu
ENST00000684163.1:c.2203+5186A>T	ENSP00000508262.1:n.2203+5186A>T
ENST00000684196.1:n.4543-12141A>T
ENST00000684325.1:c.2185+12160A>T	ENSP00000508121.1:n.2185+12160A>T
ENST00000684385.1:c.2220+5186A>T	ENSP00000507855.1:n.2220+5186A>T
ENST00000684497.1:c.2185+12160A>T	ENSP00000507057.1:n.2185+12160A>T
ENST00000382292.9:c.2251A>T MANE Select	ENSP00000371729.3:p.Met751Leu
ENST00000423156.2:c.2186-12141A>T	ENSP00000390925.2:n.2186-12141A>T
ENST00000455470.6:c.2251A>T	ENSP00000406565.2:p.Met751Leu
ENST00000382292.7:c.2251A>T	ENSP00000371729.3:p.Met751Leu
ENST00000382298.7:c.2251A>T	ENSP00000371735.3:p.Met751Leu
ENST00000402364.1:c.1A>T	ENSP00000385844.1:p.Met1Leu
ENST00000423156.1:c.1058-12141A>T	ENSP00000390925.1:n.1058-12141A>T
ENST00000455470.5:c.1949A>T
NM_001278055.1:c.1810A>T	NP_001264984.1:p.Met604Leu
NM_014363.5:c.2251A>T	NP_055178.3:p.Met751Leu
XM_005266338.1:c.2278A>T	XP_005266395.1:p.Met760Leu
XM_011535038.1:c.2302A>T	XP_011533340.1:p.Met768Leu
XM_011535039.1:c.2269A>T	XP_011533341.1:p.Met757Leu
XM_005266338.2:c.2278A>T	XP_005266395.1:p.Met760Leu
XM_011535039.2:c.2269A>T	XP_011533341.1:p.Met757Leu
XM_017020539.1:c.2242A>T	XP_016876028.1:p.Met748Leu
XM_024449337.1:c.2278A>T	XP_024305105.1:p.Met760Leu
NM_014363.6:c.2251A>T MANE Select	NP_055178.3:p.Met751Leu
NM_001278055.2:c.1810A>T	NP_001264984.1:p.Met604Leu