Canonical Allele Identifier: CA496087551

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691703T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657800T>G , CM000678.2:g.67657800T>G	GRCh38
NC_000016.9:g.67691703T>G , CM000678.1:g.67691703T>G	GRCh37
NC_000016.8:g.66249204T>G	NCBI36
NG_042874.1:g.8016A>C
NG_054728.1:g.17882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.926A>C	ENSP00000473313.2:p.His309Pro
ENST00000602780.2:n.2265A>C
ENST00000602860.6:n.2180A>C
ENST00000695641.1:n.2369A>C
ENST00000695648.1:c.1242A>C	ENSP00000512081.1:p.Pro414=
ENST00000695656.1:n.2220A>C
ENST00000695657.1:n.1578A>C
ENST00000695658.1:c.1083A>C	ENSP00000512088.1:p.Pro361=
ENST00000695659.1:c.1278A>C	ENSP00000512089.1:p.Pro426=
ENST00000695662.1:c.*739A>C	ENSP00000512091.1:n.*739A>C
ENST00000695694.1:c.1215A>C	ENSP00000512105.1:p.Pro405=
ENST00000695695.1:n.1326A>C
ENST00000695696.1:n.1307A>C
ENST00000695697.1:c.1173A>C	ENSP00000512106.1:p.Pro391=
ENST00000695698.1:n.1510A>C
ENST00000695699.1:n.1680A>C
ENST00000695709.1:n.535A>C
ENST00000695710.1:n.1894A>C
ENST00000695711.1:c.*568A>C	ENSP00000512109.1:n.*568A>C
ENST00000695712.1:c.*1010A>C	ENSP00000512110.1:n.*1010A>C
ENST00000695731.1:c.583A>C
ENST00000695732.1:c.699A>C	ENSP00000512125.1:p.Pro233=
ENST00000695733.1:c.839A>C	ENSP00000512126.1:p.His280Pro
ENST00000695734.1:c.1260A>C	ENSP00000512127.1:p.Pro420=
ENST00000219251.13:c.1251A>C	ENSP00000219251.8:p.Pro417=
ENST00000620761.6:c.1260A>C MANE Select	ENSP00000478084.1:p.Pro420=
ENST00000219251.12:c.1509A>C	ENSP00000219251.7:p.Pro503=
ENST00000393919.8:c.1518A>C	ENSP00000377496.4:p.Pro506=
ENST00000602320.1:c.1212A>C	ENSP00000473679.2:p.Pro404=
ENST00000602382.5:c.468A>C
ENST00000602622.5:n.2259A>C
ENST00000602656.1:n.524A>C
ENST00000602860.5:n.1698A>C
ENST00000620338.4:c.1518A>C	ENSP00000483117.1:p.Pro506=
ENST00000620761.4:c.1260A>C	ENSP00000478084.1:p.Pro420=
NM_001082486.1:c.1518A>C	NP_001075955.1:p.Pro506=
NM_001082487.1:c.1470A>C	NP_001075956.1:p.Pro490=
NM_022914.2:c.1509A>C	NP_075065.2:p.Pro503=
XM_005256115.2:c.1431A>C	XP_005256172.1:p.Pro477=
NM_001082486.2:c.1260A>C MANE Select	NP_001075955.2:p.Pro420=
NM_022914.3:c.1251A>C	NP_075065.3:p.Pro417=
XM_005256115.4:c.1431A>C	XP_005256172.1:p.Pro477=