Canonical Allele Identifier: CA396349703

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691569C>G (hg19) ; chr16:g.67657666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657666C>G , CM000678.2:g.67657666C>G	GRCh38
NC_000016.9:g.67691569C>G , CM000678.1:g.67691569C>G	GRCh37
NC_000016.8:g.66249070C>G	NCBI36
NG_042874.1:g.8150G>C
NG_054728.1:g.17748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.983G>C	ENSP00000473313.2:p.Trp328Ser
ENST00000602780.2:n.2399G>C
ENST00000602860.6:n.2237G>C
ENST00000695641.1:n.2426G>C
ENST00000695648.1:c.1299G>C	ENSP00000512081.1:p.Met433Ile
ENST00000695656.1:n.2354G>C
ENST00000695657.1:n.1635G>C
ENST00000695658.1:c.1140G>C	ENSP00000512088.1:p.Met380Ile
ENST00000695659.1:c.1335G>C	ENSP00000512089.1:p.Met445Ile
ENST00000695662.1:c.*796G>C	ENSP00000512091.1:n.*796G>C
ENST00000695694.1:c.1272G>C	ENSP00000512105.1:p.Met424Ile
ENST00000695695.1:n.1383G>C
ENST00000695696.1:n.1364G>C
ENST00000695697.1:c.1230G>C	ENSP00000512106.1:p.Met410Ile
ENST00000695698.1:n.1567G>C
ENST00000695709.1:n.592G>C
ENST00000695711.1:c.*625G>C	ENSP00000512109.1:n.*625G>C
ENST00000695712.1:c.*1067G>C	ENSP00000512110.1:n.*1067G>C
ENST00000695731.1:c.640G>C
ENST00000695732.1:c.756G>C	ENSP00000512125.1:p.Met252Ile
ENST00000695733.1:c.896G>C	ENSP00000512126.1:p.Trp299Ser
ENST00000695734.1:c.1334G>C	ENSP00000512127.1:p.Trp445Ser
ENST00000219251.13:c.1308G>C	ENSP00000219251.8:p.Met436Ile
ENST00000620761.6:c.1317G>C MANE Select	ENSP00000478084.1:p.Met439Ile
ENST00000219251.12:c.1566G>C	ENSP00000219251.7:p.Met522Ile
ENST00000393919.8:c.1575G>C	ENSP00000377496.4:p.Met525Ile
ENST00000602320.1:c.1269G>C	ENSP00000473679.2:p.Met423Ile
ENST00000602382.5:c.525G>C
ENST00000602622.5:n.2393G>C
ENST00000602656.1:n.581G>C
ENST00000602860.5:n.1755G>C
ENST00000620338.4:c.1575G>C	ENSP00000483117.1:p.Met525Ile
ENST00000620761.4:c.1317G>C	ENSP00000478084.1:p.Met439Ile
NM_001082486.1:c.1575G>C	NP_001075955.1:p.Met525Ile
NM_001082487.1:c.1527G>C	NP_001075956.1:p.Met509Ile
NM_022914.2:c.1566G>C	NP_075065.2:p.Met522Ile
XM_005256115.2:c.1488G>C	XP_005256172.1:p.Met496Ile
NM_001082486.2:c.1317G>C MANE Select	NP_001075955.2:p.Met439Ile
NM_022914.3:c.1308G>C	NP_075065.3:p.Met436Ile
XM_005256115.4:c.1488G>C	XP_005256172.1:p.Met496Ile