Canonical Allele Identifier: CA396349707

Gene: ACD

Linked Data

• ClinVar Variation Id: 1775541
• ClinVar RCV Id: RCV002405678
• gnomAD v4: 16-67657668-T-C
• MyVariant Identifiers: chr16:g.67691571T>C (hg19) ; chr16:g.67657668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657668T>C , CM000678.2:g.67657668T>C	GRCh38
NC_000016.9:g.67691571T>C , CM000678.1:g.67691571T>C	GRCh37
NC_000016.8:g.66249072T>C	NCBI36
NG_042874.1:g.8148A>G
NG_054728.1:g.17750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.981A>G	ENSP00000473313.2:p.Ser327=
ENST00000602780.2:n.2397A>G
ENST00000602860.6:n.2235A>G
ENST00000695641.1:n.2424A>G
ENST00000695648.1:c.1297A>G	ENSP00000512081.1:p.Met433Val
ENST00000695656.1:n.2352A>G
ENST00000695657.1:n.1633A>G
ENST00000695658.1:c.1138A>G	ENSP00000512088.1:p.Met380Val
ENST00000695659.1:c.1333A>G	ENSP00000512089.1:p.Met445Val
ENST00000695662.1:c.*794A>G	ENSP00000512091.1:n.*794A>G
ENST00000695694.1:c.1270A>G	ENSP00000512105.1:p.Met424Val
ENST00000695695.1:n.1381A>G
ENST00000695696.1:n.1362A>G
ENST00000695697.1:c.1228A>G	ENSP00000512106.1:p.Met410Val
ENST00000695698.1:n.1565A>G
ENST00000695709.1:n.590A>G
ENST00000695711.1:c.*623A>G	ENSP00000512109.1:n.*623A>G
ENST00000695712.1:c.*1065A>G	ENSP00000512110.1:n.*1065A>G
ENST00000695731.1:c.638A>G
ENST00000695732.1:c.754A>G	ENSP00000512125.1:p.Met252Val
ENST00000695733.1:c.894A>G	ENSP00000512126.1:p.Ser298=
ENST00000695734.1:c.1332A>G	ENSP00000512127.1:p.Ser444=
ENST00000219251.13:c.1306A>G	ENSP00000219251.8:p.Met436Val
ENST00000620761.6:c.1315A>G MANE Select	ENSP00000478084.1:p.Met439Val
ENST00000219251.12:c.1564A>G	ENSP00000219251.7:p.Met522Val
ENST00000393919.8:c.1573A>G	ENSP00000377496.4:p.Met525Val
ENST00000602320.1:c.1267A>G	ENSP00000473679.2:p.Met423Val
ENST00000602382.5:c.523A>G
ENST00000602622.5:n.2391A>G
ENST00000602656.1:n.579A>G
ENST00000602860.5:n.1753A>G
ENST00000620338.4:c.1573A>G	ENSP00000483117.1:p.Met525Val
ENST00000620761.4:c.1315A>G	ENSP00000478084.1:p.Met439Val
NM_001082486.1:c.1573A>G	NP_001075955.1:p.Met525Val
NM_001082487.1:c.1525A>G	NP_001075956.1:p.Met509Val
NM_022914.2:c.1564A>G	NP_075065.2:p.Met522Val
XM_005256115.2:c.1486A>G	XP_005256172.1:p.Met496Val
NM_001082486.2:c.1315A>G MANE Select	NP_001075955.2:p.Met439Val
NM_022914.3:c.1306A>G	NP_075065.3:p.Met436Val
XM_005256115.4:c.1486A>G	XP_005256172.1:p.Met496Val