Canonical Allele Identifier: CA387522140

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911648A>C (hg19) ; chr13:g.23337509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337509A>C , CM000675.2:g.23337509A>C	GRCh38
NC_000013.10:g.23911648A>C , CM000675.1:g.23911648A>C	GRCh37
NC_000013.9:g.22809648A>C	NCBI36
NG_012342.1:g.101194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16276T>G	ENSP00000508399.1:n.2185+16276T>G
ENST00000682944.1:c.6394T>G	ENSP00000507173.1:p.Leu2132Val
ENST00000683210.1:c.2185+16276T>G	ENSP00000506739.1:n.2185+16276T>G
ENST00000683270.1:c.6358T>G	ENSP00000507624.1:p.Leu2120Val
ENST00000683367.1:c.2177-8025T>G	ENSP00000507780.1:n.2177-8025T>G
ENST00000683489.1:c.2291+4076T>G	ENSP00000508403.1:n.2291+4076T>G
ENST00000683680.1:c.2318+4076T>G	ENSP00000507223.1:n.2318+4076T>G
ENST00000684163.1:c.2204-8025T>G	ENSP00000508262.1:n.2204-8025T>G
ENST00000684196.1:n.4543-8025T>G
ENST00000684325.1:c.2186-15835T>G	ENSP00000508121.1:n.2186-15835T>G
ENST00000684385.1:c.2221-8025T>G	ENSP00000507855.1:n.2221-8025T>G
ENST00000684497.1:c.2186-14865T>G	ENSP00000507057.1:n.2186-14865T>G
ENST00000382292.9:c.6367T>G MANE Select	ENSP00000371729.3:p.Leu2123Val
ENST00000423156.2:c.2186-8025T>G	ENSP00000390925.2:n.2186-8025T>G
ENST00000455470.6:c.2431+3936T>G	ENSP00000406565.2:n.2431+3936T>G
ENST00000382292.7:c.6367T>G	ENSP00000371729.3:p.Leu2123Val
ENST00000382298.7:c.6367T>G	ENSP00000371735.3:p.Leu2123Val
ENST00000402364.1:c.4117T>G	ENSP00000385844.1:p.Leu1373Val
ENST00000423156.1:c.1058-8025T>G	ENSP00000390925.1:n.1058-8025T>G
ENST00000455470.5:c.2129+3936T>G
NM_001278055.1:c.5926T>G	NP_001264984.1:p.Leu1976Val
NM_014363.5:c.6367T>G	NP_055178.3:p.Leu2123Val
XM_005266338.1:c.6394T>G	XP_005266395.1:p.Leu2132Val
XM_011535038.1:c.6418T>G	XP_011533340.1:p.Leu2140Val
XM_011535039.1:c.6385T>G	XP_011533341.1:p.Leu2129Val
XM_005266338.2:c.6394T>G	XP_005266395.1:p.Leu2132Val
XM_011535039.2:c.6385T>G	XP_011533341.1:p.Leu2129Val
XM_017020539.1:c.6358T>G	XP_016876028.1:p.Leu2120Val
XM_024449337.1:c.6394T>G	XP_024305105.1:p.Leu2132Val
NM_014363.6:c.6367T>G MANE Select	NP_055178.3:p.Leu2123Val
NM_001278055.2:c.5926T>G	NP_001264984.1:p.Leu1976Val