Canonical Allele Identifier: CA387510702

Gene: SACS

Linked Data

• gnomAD v4: 13-23332762-G-A
• COSMIC: COSM3727199 ; COSM3727200
• MyVariant Identifiers: chr13:g.23906901G>A (hg19) ; chr13:g.23332762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332762G>A , CM000675.2:g.23332762G>A	GRCh38
NC_000013.10:g.23906901G>A , CM000675.1:g.23906901G>A	GRCh37
NC_000013.9:g.22804901G>A	NCBI36
NG_012342.1:g.105941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20647C>T	ENSP00000508399.1:n.2186-20647C>T
ENST00000682944.1:c.11141C>T	ENSP00000507173.1:p.Pro3714Leu
ENST00000683210.1:c.2185+21023C>T	ENSP00000506739.1:n.2185+21023C>T
ENST00000683270.1:c.6446-3278C>T	ENSP00000507624.1:n.6446-3278C>T
ENST00000683367.1:c.2177-3278C>T	ENSP00000507780.1:n.2177-3278C>T
ENST00000683489.1:c.2292-2810C>T	ENSP00000508403.1:n.2292-2810C>T
ENST00000683680.1:c.2319-2810C>T	ENSP00000507223.1:n.2319-2810C>T
ENST00000684163.1:c.2204-3278C>T	ENSP00000508262.1:n.2204-3278C>T
ENST00000684196.1:n.4543-3278C>T
ENST00000684325.1:c.2186-11088C>T	ENSP00000508121.1:n.2186-11088C>T
ENST00000684385.1:c.2221-3278C>T	ENSP00000507855.1:n.2221-3278C>T
ENST00000684497.1:c.2186-10118C>T	ENSP00000507057.1:n.2186-10118C>T
ENST00000382292.9:c.11114C>T MANE Select	ENSP00000371729.3:p.Pro3705Leu
ENST00000423156.2:c.2186-3278C>T	ENSP00000390925.2:n.2186-3278C>T
ENST00000455470.6:c.2432-3278C>T	ENSP00000406565.2:n.2432-3278C>T
ENST00000382292.7:c.11114C>T	ENSP00000371729.3:p.Pro3705Leu
ENST00000382298.7:c.11114C>T	ENSP00000371735.3:p.Pro3705Leu
ENST00000402364.1:c.8864C>T	ENSP00000385844.1:p.Pro2955Leu
ENST00000423156.1:c.1058-3278C>T	ENSP00000390925.1:n.1058-3278C>T
ENST00000455470.5:c.2130-3278C>T
NM_001278055.1:c.10673C>T	NP_001264984.1:p.Pro3558Leu
NM_014363.5:c.11114C>T	NP_055178.3:p.Pro3705Leu
XM_005266338.1:c.11141C>T	XP_005266395.1:p.Pro3714Leu
XM_011535038.1:c.11165C>T	XP_011533340.1:p.Pro3722Leu
XM_011535039.1:c.11132C>T	XP_011533341.1:p.Pro3711Leu
XM_005266338.2:c.11141C>T	XP_005266395.1:p.Pro3714Leu
XM_011535039.2:c.11132C>T	XP_011533341.1:p.Pro3711Leu
XM_017020539.1:c.11105C>T	XP_016876028.1:p.Pro3702Leu
XM_024449337.1:c.11141C>T	XP_024305105.1:p.Pro3714Leu
NM_014363.6:c.11114C>T MANE Select	NP_055178.3:p.Pro3705Leu
NM_001278055.2:c.10673C>T	NP_001264984.1:p.Pro3558Leu