Canonical Allele Identifier: CA396349808

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691674T>G (hg19) ; chr16:g.67657771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657771T>G , CM000678.2:g.67657771T>G	GRCh38
NC_000016.9:g.67691674T>G , CM000678.1:g.67691674T>G	GRCh37
NC_000016.8:g.66249175T>G	NCBI36
NG_042874.1:g.8045A>C
NG_054728.1:g.17853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.955A>C	ENSP00000473313.2:p.Lys319Gln
ENST00000602780.2:n.2294A>C
ENST00000602860.6:n.2209A>C
ENST00000695641.1:n.2398A>C
ENST00000695648.1:c.1271A>C	ENSP00000512081.1:p.Gln424Pro
ENST00000695656.1:n.2249A>C
ENST00000695657.1:n.1607A>C
ENST00000695658.1:c.1112A>C	ENSP00000512088.1:p.Gln371Pro
ENST00000695659.1:c.1307A>C	ENSP00000512089.1:p.Gln436Pro
ENST00000695662.1:c.*768A>C	ENSP00000512091.1:n.*768A>C
ENST00000695694.1:c.1244A>C	ENSP00000512105.1:p.Gln415Pro
ENST00000695695.1:n.1355A>C
ENST00000695696.1:n.1336A>C
ENST00000695697.1:c.1202A>C	ENSP00000512106.1:p.Gln401Pro
ENST00000695698.1:n.1539A>C
ENST00000695699.1:n.1709A>C
ENST00000695709.1:n.564A>C
ENST00000695711.1:c.*597A>C	ENSP00000512109.1:n.*597A>C
ENST00000695712.1:c.*1039A>C	ENSP00000512110.1:n.*1039A>C
ENST00000695731.1:c.612A>C
ENST00000695732.1:c.728A>C	ENSP00000512125.1:p.Gln243Pro
ENST00000695733.1:c.868A>C	ENSP00000512126.1:p.Lys290Gln
ENST00000695734.1:c.1289A>C	ENSP00000512127.1:p.Gln430Pro
ENST00000219251.13:c.1280A>C	ENSP00000219251.8:p.Gln427Pro
ENST00000620761.6:c.1289A>C MANE Select	ENSP00000478084.1:p.Gln430Pro
ENST00000219251.12:c.1538A>C	ENSP00000219251.7:p.Gln513Pro
ENST00000393919.8:c.1547A>C	ENSP00000377496.4:p.Gln516Pro
ENST00000602320.1:c.1241A>C	ENSP00000473679.2:p.Gln414Pro
ENST00000602382.5:c.497A>C
ENST00000602622.5:n.2288A>C
ENST00000602656.1:n.553A>C
ENST00000602860.5:n.1727A>C
ENST00000620338.4:c.1547A>C	ENSP00000483117.1:p.Gln516Pro
ENST00000620761.4:c.1289A>C	ENSP00000478084.1:p.Gln430Pro
NM_001082486.1:c.1547A>C	NP_001075955.1:p.Gln516Pro
NM_001082487.1:c.1499A>C	NP_001075956.1:p.Gln500Pro
NM_022914.2:c.1538A>C	NP_075065.2:p.Gln513Pro
XM_005256115.2:c.1460A>C	XP_005256172.1:p.Gln487Pro
NM_001082486.2:c.1289A>C MANE Select	NP_001075955.2:p.Gln430Pro
NM_022914.3:c.1280A>C	NP_075065.3:p.Gln427Pro
XM_005256115.4:c.1460A>C	XP_005256172.1:p.Gln487Pro