Canonical Allele Identifier: CA396350016

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691737C>G (hg19) ; chr16:g.67657834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657834C>G , CM000678.2:g.67657834C>G	GRCh38
NC_000016.9:g.67691737C>G , CM000678.1:g.67691737C>G	GRCh37
NC_000016.8:g.66249238C>G	NCBI36
NG_042874.1:g.7982G>C
NG_054728.1:g.17916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.892G>C	ENSP00000473313.2:p.Val298Leu
ENST00000602780.2:n.2231G>C
ENST00000602860.6:n.2146G>C
ENST00000695641.1:n.2335G>C
ENST00000695648.1:c.1208G>C	ENSP00000512081.1:p.Arg403Pro
ENST00000695656.1:n.2186G>C
ENST00000695657.1:n.1544G>C
ENST00000695658.1:c.1049G>C	ENSP00000512088.1:p.Arg350Pro
ENST00000695659.1:c.1244G>C	ENSP00000512089.1:p.Arg415Pro
ENST00000695662.1:c.*705G>C	ENSP00000512091.1:n.*705G>C
ENST00000695694.1:c.1181G>C	ENSP00000512105.1:p.Arg394Pro
ENST00000695695.1:n.1292G>C
ENST00000695696.1:n.1273G>C
ENST00000695697.1:c.1139G>C	ENSP00000512106.1:p.Arg380Pro
ENST00000695698.1:n.1476G>C
ENST00000695699.1:n.1646G>C
ENST00000695709.1:n.501G>C
ENST00000695710.1:n.1860G>C
ENST00000695711.1:c.*534G>C	ENSP00000512109.1:n.*534G>C
ENST00000695712.1:c.*976G>C	ENSP00000512110.1:n.*976G>C
ENST00000695731.1:c.549G>C
ENST00000695732.1:c.665G>C	ENSP00000512125.1:p.Arg222Pro
ENST00000695733.1:c.805G>C	ENSP00000512126.1:p.Val269Leu
ENST00000695734.1:c.1226G>C	ENSP00000512127.1:p.Arg409Pro
ENST00000219251.13:c.1217G>C	ENSP00000219251.8:p.Arg406Pro
ENST00000620761.6:c.1226G>C MANE Select	ENSP00000478084.1:p.Arg409Pro
ENST00000219251.12:c.1475G>C	ENSP00000219251.7:p.Arg492Pro
ENST00000393919.8:c.1484G>C	ENSP00000377496.4:p.Arg495Pro
ENST00000602320.1:c.1198-20G>C	ENSP00000473679.2:n.1198-20G>C
ENST00000602382.5:c.434G>C
ENST00000602622.5:n.2225G>C
ENST00000602656.1:n.490G>C
ENST00000602860.5:n.1664G>C
ENST00000620338.4:c.1484G>C	ENSP00000483117.1:p.Arg495Pro
ENST00000620761.4:c.1226G>C	ENSP00000478084.1:p.Arg409Pro
NM_001082486.1:c.1484G>C	NP_001075955.1:p.Arg495Pro
NM_001082487.1:c.1456-20G>C	NP_001075956.1:n.1456-20G>C
NM_022914.2:c.1475G>C	NP_075065.2:p.Arg492Pro
XM_005256115.2:c.1397G>C	XP_005256172.1:p.Arg466Pro
NM_001082486.2:c.1226G>C MANE Select	NP_001075955.2:p.Arg409Pro
NM_022914.3:c.1217G>C	NP_075065.3:p.Arg406Pro
XM_005256115.4:c.1397G>C	XP_005256172.1:p.Arg466Pro