Canonical Allele Identifier: CA397148209

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211780G>T (hg19) ; chr16:g.89145372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145372G>T , CM000678.2:g.89145372G>T	GRCh38
NC_000016.9:g.89211780G>T , CM000678.1:g.89211780G>T	GRCh37
NC_000016.8:g.87739281G>T	NCBI36
NG_031961.1:g.56564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1472G>T	ENSP00000320646.4:p.Trp491Leu
ENST00000614302.5:c.1472G>T MANE Select	ENSP00000479130.1:p.Trp491Leu
ENST00000649953.1:c.1682G>T	ENSP00000497456.1:p.Trp561Leu
ENST00000317447.8:c.1472G>T	ENSP00000320646.4:p.Trp491Leu
ENST00000378345.8:c.677G>T	ENSP00000367596.4:p.Trp226Leu
ENST00000406948.7:c.1472G>T	ENSP00000384627.3:p.Trp491Leu
ENST00000537116.5:n.598G>T
ENST00000537155.1:n.212G>T
ENST00000542688.5:c.*216G>T	ENSP00000446281.1:n.*216G>T
ENST00000544543.5:c.677G>T	ENSP00000442781.1:p.Trp226Leu
ENST00000562204.1:n.445G>T
ENST00000614302.4:c.1472G>T	ENSP00000479130.1:p.Trp491Leu
NM_001127214.3:c.1472G>T	NP_001120686.1:p.Trp491Leu
NM_001243279.2:c.1472G>T	NP_001230208.1:p.Trp491Leu
NM_001284316.1:c.677G>T	NP_001271245.1:p.Trp226Leu
NM_174917.4:c.1472G>T	NP_777577.2:p.Trp491Leu
NR_045667.2:n.598G>T
NR_104293.1:n.1906G>T
XM_005256293.1:c.1472G>T	XP_005256350.1:p.Trp491Leu
XM_011522942.1:c.1472G>T	XP_011521244.1:p.Trp491Leu
XM_011522943.1:c.1472G>T	XP_011521245.1:p.Trp491Leu
XR_933239.1:n.1913G>T
XR_933240.1:n.1910G>T
XR_933241.1:n.1667G>T
NR_147928.1:n.1950G>T
NR_147929.1:n.1704G>T
XM_005256293.2:c.1472G>T	XP_005256350.1:p.Trp491Leu
XM_017023018.1:c.1472G>T	XP_016878507.1:p.Trp491Leu
XM_017023019.1:c.1472G>T	XP_016878508.1:p.Trp491Leu
XM_017023020.2:c.-3633G>T	XP_016878509.1:n.-3633G>T
XM_017023022.1:c.605G>T	XP_016878511.1:p.Trp202Leu
XM_024450186.1:c.677G>T	XP_024305954.1:p.Trp226Leu
XM_024450187.1:c.677G>T	XP_024305955.1:p.Trp226Leu
XR_001751864.2:n.1719G>T
XR_001751865.1:n.1666G>T
XR_933240.3:n.1909G>T
NM_001127214.4:c.1472G>T	NP_001120686.1:p.Trp491Leu
NM_001243279.3:c.1472G>T MANE Select	NP_001230208.1:p.Trp491Leu
NM_001284316.2:c.677G>T	NP_001271245.1:p.Trp226Leu
NM_174917.5:c.1472G>T	NP_777577.2:p.Trp491Leu
NR_104293.2:n.1863G>T
NR_147928.2:n.1907G>T
NR_147929.2:n.1661G>T