Canonical Allele Identifier: CA387523398

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911688C>G (hg19) ; chr13:g.23337549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337549C>G , CM000675.2:g.23337549C>G	GRCh38
NC_000013.10:g.23911688C>G , CM000675.1:g.23911688C>G	GRCh37
NC_000013.9:g.22809688C>G	NCBI36
NG_012342.1:g.101154G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16236G>C	ENSP00000508399.1:n.2185+16236G>C
ENST00000682944.1:c.6354G>C	ENSP00000507173.1:p.Leu2118Phe
ENST00000683210.1:c.2185+16236G>C	ENSP00000506739.1:n.2185+16236G>C
ENST00000683270.1:c.6318G>C	ENSP00000507624.1:p.Leu2106Phe
ENST00000683367.1:c.2177-8065G>C	ENSP00000507780.1:n.2177-8065G>C
ENST00000683489.1:c.2291+4036G>C	ENSP00000508403.1:n.2291+4036G>C
ENST00000683680.1:c.2318+4036G>C	ENSP00000507223.1:n.2318+4036G>C
ENST00000684163.1:c.2204-8065G>C	ENSP00000508262.1:n.2204-8065G>C
ENST00000684196.1:n.4543-8065G>C
ENST00000684325.1:c.2186-15875G>C	ENSP00000508121.1:n.2186-15875G>C
ENST00000684385.1:c.2221-8065G>C	ENSP00000507855.1:n.2221-8065G>C
ENST00000684497.1:c.2186-14905G>C	ENSP00000507057.1:n.2186-14905G>C
ENST00000382292.9:c.6327G>C MANE Select	ENSP00000371729.3:p.Leu2109Phe
ENST00000423156.2:c.2186-8065G>C	ENSP00000390925.2:n.2186-8065G>C
ENST00000455470.6:c.2431+3896G>C	ENSP00000406565.2:n.2431+3896G>C
ENST00000382292.7:c.6327G>C	ENSP00000371729.3:p.Leu2109Phe
ENST00000382298.7:c.6327G>C	ENSP00000371735.3:p.Leu2109Phe
ENST00000402364.1:c.4077G>C	ENSP00000385844.1:p.Leu1359Phe
ENST00000423156.1:c.1058-8065G>C	ENSP00000390925.1:n.1058-8065G>C
ENST00000455470.5:c.2129+3896G>C
NM_001278055.1:c.5886G>C	NP_001264984.1:p.Leu1962Phe
NM_014363.5:c.6327G>C	NP_055178.3:p.Leu2109Phe
XM_005266338.1:c.6354G>C	XP_005266395.1:p.Leu2118Phe
XM_011535038.1:c.6378G>C	XP_011533340.1:p.Leu2126Phe
XM_011535039.1:c.6345G>C	XP_011533341.1:p.Leu2115Phe
XM_005266338.2:c.6354G>C	XP_005266395.1:p.Leu2118Phe
XM_011535039.2:c.6345G>C	XP_011533341.1:p.Leu2115Phe
XM_017020539.1:c.6318G>C	XP_016876028.1:p.Leu2106Phe
XM_024449337.1:c.6354G>C	XP_024305105.1:p.Leu2118Phe
NM_014363.6:c.6327G>C MANE Select	NP_055178.3:p.Leu2109Phe
NM_001278055.2:c.5886G>C	NP_001264984.1:p.Leu1962Phe