Canonical Allele Identifier: CA396349729

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691582G>C (hg19) ; chr16:g.67657679G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657679G>C , CM000678.2:g.67657679G>C	GRCh38
NC_000016.9:g.67691582G>C , CM000678.1:g.67691582G>C	GRCh37
NC_000016.8:g.66249083G>C	NCBI36
NG_042874.1:g.8137C>G
NG_054728.1:g.17761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.970C>G	ENSP00000473313.2:p.Leu324Val
ENST00000602780.2:n.2386C>G
ENST00000602860.6:n.2224C>G
ENST00000695641.1:n.2413C>G
ENST00000695648.1:c.1286C>G	ENSP00000512081.1:p.Pro429Arg
ENST00000695656.1:n.2341C>G
ENST00000695657.1:n.1622C>G
ENST00000695658.1:c.1127C>G	ENSP00000512088.1:p.Pro376Arg
ENST00000695659.1:c.1322C>G	ENSP00000512089.1:p.Pro441Arg
ENST00000695662.1:c.*783C>G	ENSP00000512091.1:n.*783C>G
ENST00000695694.1:c.1259C>G	ENSP00000512105.1:p.Pro420Arg
ENST00000695695.1:n.1370C>G
ENST00000695696.1:n.1351C>G
ENST00000695697.1:c.1217C>G	ENSP00000512106.1:p.Pro406Arg
ENST00000695698.1:n.1554C>G
ENST00000695709.1:n.579C>G
ENST00000695711.1:c.*612C>G	ENSP00000512109.1:n.*612C>G
ENST00000695712.1:c.*1054C>G	ENSP00000512110.1:n.*1054C>G
ENST00000695731.1:c.627C>G
ENST00000695732.1:c.743C>G	ENSP00000512125.1:p.Pro248Arg
ENST00000695733.1:c.883C>G	ENSP00000512126.1:p.Leu295Val
ENST00000695734.1:c.1321C>G	ENSP00000512127.1:p.Leu441Val
ENST00000219251.13:c.1295C>G	ENSP00000219251.8:p.Pro432Arg
ENST00000620761.6:c.1304C>G MANE Select	ENSP00000478084.1:p.Pro435Arg
ENST00000219251.12:c.1553C>G	ENSP00000219251.7:p.Pro518Arg
ENST00000393919.8:c.1562C>G	ENSP00000377496.4:p.Pro521Arg
ENST00000602320.1:c.1256C>G	ENSP00000473679.2:p.Pro419Arg
ENST00000602382.5:c.512C>G
ENST00000602622.5:n.2380C>G
ENST00000602656.1:n.568C>G
ENST00000602860.5:n.1742C>G
ENST00000620338.4:c.1562C>G	ENSP00000483117.1:p.Pro521Arg
ENST00000620761.4:c.1304C>G	ENSP00000478084.1:p.Pro435Arg
NM_001082486.1:c.1562C>G	NP_001075955.1:p.Pro521Arg
NM_001082487.1:c.1514C>G	NP_001075956.1:p.Pro505Arg
NM_022914.2:c.1553C>G	NP_075065.2:p.Pro518Arg
XM_005256115.2:c.1475C>G	XP_005256172.1:p.Pro492Arg
NM_001082486.2:c.1304C>G MANE Select	NP_001075955.2:p.Pro435Arg
NM_022914.3:c.1295C>G	NP_075065.3:p.Pro432Arg
XM_005256115.4:c.1475C>G	XP_005256172.1:p.Pro492Arg