Canonical Allele Identifier: CA396349894

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691705G>C (hg19) ; chr16:g.67657802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657802G>C , CM000678.2:g.67657802G>C	GRCh38
NC_000016.9:g.67691705G>C , CM000678.1:g.67691705G>C	GRCh37
NC_000016.8:g.66249206G>C	NCBI36
NG_042874.1:g.8014C>G
NG_054728.1:g.17884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.924C>G	ENSP00000473313.2:p.Ser308Arg
ENST00000602780.2:n.2263C>G
ENST00000602860.6:n.2178C>G
ENST00000695641.1:n.2367C>G
ENST00000695648.1:c.1240C>G	ENSP00000512081.1:p.Pro414Ala
ENST00000695656.1:n.2218C>G
ENST00000695657.1:n.1576C>G
ENST00000695658.1:c.1081C>G	ENSP00000512088.1:p.Pro361Ala
ENST00000695659.1:c.1276C>G	ENSP00000512089.1:p.Pro426Ala
ENST00000695662.1:c.*737C>G	ENSP00000512091.1:n.*737C>G
ENST00000695694.1:c.1213C>G	ENSP00000512105.1:p.Pro405Ala
ENST00000695695.1:n.1324C>G
ENST00000695696.1:n.1305C>G
ENST00000695697.1:c.1171C>G	ENSP00000512106.1:p.Pro391Ala
ENST00000695698.1:n.1508C>G
ENST00000695699.1:n.1678C>G
ENST00000695709.1:n.533C>G
ENST00000695710.1:n.1892C>G
ENST00000695711.1:c.*566C>G	ENSP00000512109.1:n.*566C>G
ENST00000695712.1:c.*1008C>G	ENSP00000512110.1:n.*1008C>G
ENST00000695731.1:c.581C>G
ENST00000695732.1:c.697C>G	ENSP00000512125.1:p.Pro233Ala
ENST00000695733.1:c.837C>G	ENSP00000512126.1:p.Ser279Arg
ENST00000695734.1:c.1258C>G	ENSP00000512127.1:p.Pro420Ala
ENST00000219251.13:c.1249C>G	ENSP00000219251.8:p.Pro417Ala
ENST00000620761.6:c.1258C>G MANE Select	ENSP00000478084.1:p.Pro420Ala
ENST00000219251.12:c.1507C>G	ENSP00000219251.7:p.Pro503Ala
ENST00000393919.8:c.1516C>G	ENSP00000377496.4:p.Pro506Ala
ENST00000602320.1:c.1210C>G	ENSP00000473679.2:p.Pro404Ala
ENST00000602382.5:c.466C>G
ENST00000602622.5:n.2257C>G
ENST00000602656.1:n.522C>G
ENST00000602860.5:n.1696C>G
ENST00000620338.4:c.1516C>G	ENSP00000483117.1:p.Pro506Ala
ENST00000620761.4:c.1258C>G	ENSP00000478084.1:p.Pro420Ala
NM_001082486.1:c.1516C>G	NP_001075955.1:p.Pro506Ala
NM_001082487.1:c.1468C>G	NP_001075956.1:p.Pro490Ala
NM_022914.2:c.1507C>G	NP_075065.2:p.Pro503Ala
XM_005256115.2:c.1429C>G	XP_005256172.1:p.Pro477Ala
NM_001082486.2:c.1258C>G MANE Select	NP_001075955.2:p.Pro420Ala
NM_022914.3:c.1249C>G	NP_075065.3:p.Pro417Ala
XM_005256115.4:c.1429C>G	XP_005256172.1:p.Pro477Ala