Canonical Allele Identifier: CA396349827

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657777C>G , CM000678.2:g.67657777C>G	GRCh38
NC_000016.9:g.67691680C>G , CM000678.1:g.67691680C>G	GRCh37
NC_000016.8:g.66249181C>G	NCBI36
NG_042874.1:g.8039G>C
NG_054728.1:g.17859C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1283G>C MANE Select	NP_001075955.2:p.Arg428Pro
ENST00000620761.6:c.1283G>C MANE Select	ENSP00000478084.1:p.Arg428Pro
NM_001082486.1:c.1541G>C	NP_001075955.1:p.Arg514Pro
NM_001082487.1:c.1493G>C	NP_001075956.1:p.Arg498Pro
NM_022914.2:c.1532G>C	NP_075065.2:p.Arg511Pro
NM_022914.3:c.1274G>C	NP_075065.3:p.Arg425Pro
ENST00000219251.12:c.1532G>C	ENSP00000219251.7:p.Arg511Pro
ENST00000219251.13:c.1274G>C	ENSP00000219251.8:p.Arg425Pro
ENST00000393919.8:c.1541G>C	ENSP00000377496.4:p.Arg514Pro
ENST00000602320.1:c.1235G>C	ENSP00000473679.2:p.Arg412Pro
ENST00000602382.5:c.491G>C
ENST00000602382.6:c.949G>C	ENSP00000473313.2:p.Gly317Arg
ENST00000602622.5:n.2282G>C
ENST00000602656.1:n.547G>C
ENST00000602780.2:n.2288G>C
ENST00000602860.5:n.1721G>C
ENST00000602860.6:n.2203G>C
ENST00000620338.4:c.1541G>C	ENSP00000483117.1:p.Arg514Pro
ENST00000620761.4:c.1283G>C	ENSP00000478084.1:p.Arg428Pro
ENST00000695641.1:n.2392G>C
ENST00000695648.1:c.1265G>C	ENSP00000512081.1:p.Arg422Pro
ENST00000695656.1:n.2243G>C
ENST00000695657.1:n.1601G>C
ENST00000695658.1:c.1106G>C	ENSP00000512088.1:p.Arg369Pro
ENST00000695659.1:c.1301G>C	ENSP00000512089.1:p.Arg434Pro
ENST00000695662.1:c.*762G>C	ENSP00000512091.1:n.*762G>C
ENST00000695694.1:c.1238G>C	ENSP00000512105.1:p.Arg413Pro
ENST00000695695.1:n.1349G>C
ENST00000695696.1:n.1330G>C
ENST00000695697.1:c.1196G>C	ENSP00000512106.1:p.Arg399Pro
ENST00000695698.1:n.1533G>C
ENST00000695699.1:n.1703G>C
ENST00000695709.1:n.558G>C
ENST00000695711.1:c.*591G>C	ENSP00000512109.1:n.*591G>C
ENST00000695712.1:c.*1033G>C	ENSP00000512110.1:n.*1033G>C
ENST00000695731.1:c.606G>C
ENST00000695732.1:c.722G>C	ENSP00000512125.1:p.Arg241Pro
ENST00000695733.1:c.862G>C	ENSP00000512126.1:p.Gly288Arg
ENST00000695734.1:c.1283G>C	ENSP00000512127.1:p.Arg428Pro
XM_005256115.2:c.1454G>C	XP_005256172.1:p.Arg485Pro
XM_005256115.4:c.1454G>C	XP_005256172.1:p.Arg485Pro