Canonical Allele Identifier: CA396350060

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691750G>C (hg19) ; chr16:g.67657847G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657847G>C , CM000678.2:g.67657847G>C	GRCh38
NC_000016.9:g.67691750G>C , CM000678.1:g.67691750G>C	GRCh37
NC_000016.8:g.66249251G>C	NCBI36
NG_042874.1:g.7969C>G
NG_054728.1:g.17929G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.879C>G	ENSP00000473313.2:p.Pro293=
ENST00000602780.2:n.2218C>G
ENST00000602860.6:n.2133C>G
ENST00000695641.1:n.2322C>G
ENST00000695648.1:c.1195C>G	ENSP00000512081.1:p.Pro399Ala
ENST00000695656.1:n.2173C>G
ENST00000695657.1:n.1531C>G
ENST00000695658.1:c.1036C>G	ENSP00000512088.1:p.Pro346Ala
ENST00000695659.1:c.1231C>G	ENSP00000512089.1:p.Pro411Ala
ENST00000695662.1:c.*692C>G	ENSP00000512091.1:n.*692C>G
ENST00000695694.1:c.1168C>G	ENSP00000512105.1:p.Pro390Ala
ENST00000695695.1:n.1279C>G
ENST00000695696.1:n.1260C>G
ENST00000695697.1:c.1126C>G	ENSP00000512106.1:p.Pro376Ala
ENST00000695698.1:n.1463C>G
ENST00000695699.1:n.1633C>G
ENST00000695709.1:n.488C>G
ENST00000695710.1:n.1847C>G
ENST00000695711.1:c.*521C>G	ENSP00000512109.1:n.*521C>G
ENST00000695712.1:c.*963C>G	ENSP00000512110.1:n.*963C>G
ENST00000695731.1:c.536C>G
ENST00000695732.1:c.652C>G	ENSP00000512125.1:p.Pro218Ala
ENST00000695733.1:c.792C>G	ENSP00000512126.1:p.Pro264=
ENST00000695734.1:c.1213C>G	ENSP00000512127.1:p.Pro405Ala
ENST00000219251.13:c.1204C>G	ENSP00000219251.8:p.Pro402Ala
ENST00000620761.6:c.1213C>G MANE Select	ENSP00000478084.1:p.Pro405Ala
ENST00000219251.12:c.1462C>G	ENSP00000219251.7:p.Pro488Ala
ENST00000393919.8:c.1471C>G	ENSP00000377496.4:p.Pro491Ala
ENST00000602320.1:c.1198-33C>G	ENSP00000473679.2:n.1198-33C>G
ENST00000602382.5:c.421C>G
ENST00000602622.5:n.2212C>G
ENST00000602656.1:n.477C>G
ENST00000602860.5:n.1651C>G
ENST00000620338.4:c.1471C>G	ENSP00000483117.1:p.Pro491Ala
ENST00000620761.4:c.1213C>G	ENSP00000478084.1:p.Pro405Ala
NM_001082486.1:c.1471C>G	NP_001075955.1:p.Pro491Ala
NM_001082487.1:c.1456-33C>G	NP_001075956.1:n.1456-33C>G
NM_022914.2:c.1462C>G	NP_075065.2:p.Pro488Ala
XM_005256115.2:c.1384C>G	XP_005256172.1:p.Pro462Ala
NM_001082486.2:c.1213C>G MANE Select	NP_001075955.2:p.Pro405Ala
NM_022914.3:c.1204C>G	NP_075065.3:p.Pro402Ala
XM_005256115.4:c.1384C>G	XP_005256172.1:p.Pro462Ala