Canonical Allele Identifier: CA387522173

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911657C>A (hg19) ; chr13:g.23337518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337518C>A , CM000675.2:g.23337518C>A	GRCh38
NC_000013.10:g.23911657C>A , CM000675.1:g.23911657C>A	GRCh37
NC_000013.9:g.22809657C>A	NCBI36
NG_012342.1:g.101185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16267G>T	ENSP00000508399.1:n.2185+16267G>T
ENST00000682944.1:c.6385G>T	ENSP00000507173.1:p.Val2129Phe
ENST00000683210.1:c.2185+16267G>T	ENSP00000506739.1:n.2185+16267G>T
ENST00000683270.1:c.6349G>T	ENSP00000507624.1:p.Val2117Phe
ENST00000683367.1:c.2177-8034G>T	ENSP00000507780.1:n.2177-8034G>T
ENST00000683489.1:c.2291+4067G>T	ENSP00000508403.1:n.2291+4067G>T
ENST00000683680.1:c.2318+4067G>T	ENSP00000507223.1:n.2318+4067G>T
ENST00000684163.1:c.2204-8034G>T	ENSP00000508262.1:n.2204-8034G>T
ENST00000684196.1:n.4543-8034G>T
ENST00000684325.1:c.2186-15844G>T	ENSP00000508121.1:n.2186-15844G>T
ENST00000684385.1:c.2221-8034G>T	ENSP00000507855.1:n.2221-8034G>T
ENST00000684497.1:c.2186-14874G>T	ENSP00000507057.1:n.2186-14874G>T
ENST00000382292.9:c.6358G>T MANE Select	ENSP00000371729.3:p.Val2120Phe
ENST00000423156.2:c.2186-8034G>T	ENSP00000390925.2:n.2186-8034G>T
ENST00000455470.6:c.2431+3927G>T	ENSP00000406565.2:n.2431+3927G>T
ENST00000382292.7:c.6358G>T	ENSP00000371729.3:p.Val2120Phe
ENST00000382298.7:c.6358G>T	ENSP00000371735.3:p.Val2120Phe
ENST00000402364.1:c.4108G>T	ENSP00000385844.1:p.Val1370Phe
ENST00000423156.1:c.1058-8034G>T	ENSP00000390925.1:n.1058-8034G>T
ENST00000455470.5:c.2129+3927G>T
NM_001278055.1:c.5917G>T	NP_001264984.1:p.Val1973Phe
NM_014363.5:c.6358G>T	NP_055178.3:p.Val2120Phe
XM_005266338.1:c.6385G>T	XP_005266395.1:p.Val2129Phe
XM_011535038.1:c.6409G>T	XP_011533340.1:p.Val2137Phe
XM_011535039.1:c.6376G>T	XP_011533341.1:p.Val2126Phe
XM_005266338.2:c.6385G>T	XP_005266395.1:p.Val2129Phe
XM_011535039.2:c.6376G>T	XP_011533341.1:p.Val2126Phe
XM_017020539.1:c.6349G>T	XP_016876028.1:p.Val2117Phe
XM_024449337.1:c.6385G>T	XP_024305105.1:p.Val2129Phe
NM_014363.6:c.6358G>T MANE Select	NP_055178.3:p.Val2120Phe
NM_001278055.2:c.5917G>T	NP_001264984.1:p.Val1973Phe