Canonical Allele Identifier: CA396349732

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691583G>C (hg19) ; chr16:g.67657680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657680G>C , CM000678.2:g.67657680G>C	GRCh38
NC_000016.9:g.67691583G>C , CM000678.1:g.67691583G>C	GRCh37
NC_000016.8:g.66249084G>C	NCBI36
NG_042874.1:g.8136C>G
NG_054728.1:g.17762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.969C>G	ENSP00000473313.2:p.Phe323Leu
ENST00000602780.2:n.2385C>G
ENST00000602860.6:n.2223C>G
ENST00000695641.1:n.2412C>G
ENST00000695648.1:c.1285C>G	ENSP00000512081.1:p.Pro429Ala
ENST00000695656.1:n.2340C>G
ENST00000695657.1:n.1621C>G
ENST00000695658.1:c.1126C>G	ENSP00000512088.1:p.Pro376Ala
ENST00000695659.1:c.1321C>G	ENSP00000512089.1:p.Pro441Ala
ENST00000695662.1:c.*782C>G	ENSP00000512091.1:n.*782C>G
ENST00000695694.1:c.1258C>G	ENSP00000512105.1:p.Pro420Ala
ENST00000695695.1:n.1369C>G
ENST00000695696.1:n.1350C>G
ENST00000695697.1:c.1216C>G	ENSP00000512106.1:p.Pro406Ala
ENST00000695698.1:n.1553C>G
ENST00000695709.1:n.578C>G
ENST00000695711.1:c.*611C>G	ENSP00000512109.1:n.*611C>G
ENST00000695712.1:c.*1053C>G	ENSP00000512110.1:n.*1053C>G
ENST00000695731.1:c.626C>G
ENST00000695732.1:c.742C>G	ENSP00000512125.1:p.Pro248Ala
ENST00000695733.1:c.882C>G	ENSP00000512126.1:p.Phe294Leu
ENST00000695734.1:c.1320C>G	ENSP00000512127.1:p.Phe440Leu
ENST00000219251.13:c.1294C>G	ENSP00000219251.8:p.Pro432Ala
ENST00000620761.6:c.1303C>G MANE Select	ENSP00000478084.1:p.Pro435Ala
ENST00000219251.12:c.1552C>G	ENSP00000219251.7:p.Pro518Ala
ENST00000393919.8:c.1561C>G	ENSP00000377496.4:p.Pro521Ala
ENST00000602320.1:c.1255C>G	ENSP00000473679.2:p.Pro419Ala
ENST00000602382.5:c.511C>G
ENST00000602622.5:n.2379C>G
ENST00000602656.1:n.567C>G
ENST00000602860.5:n.1741C>G
ENST00000620338.4:c.1561C>G	ENSP00000483117.1:p.Pro521Ala
ENST00000620761.4:c.1303C>G	ENSP00000478084.1:p.Pro435Ala
NM_001082486.1:c.1561C>G	NP_001075955.1:p.Pro521Ala
NM_001082487.1:c.1513C>G	NP_001075956.1:p.Pro505Ala
NM_022914.2:c.1552C>G	NP_075065.2:p.Pro518Ala
XM_005256115.2:c.1474C>G	XP_005256172.1:p.Pro492Ala
NM_001082486.2:c.1303C>G MANE Select	NP_001075955.2:p.Pro435Ala
NM_022914.3:c.1294C>G	NP_075065.3:p.Pro432Ala
XM_005256115.4:c.1474C>G	XP_005256172.1:p.Pro492Ala