Canonical Allele Identifier: CA400558058

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566135A>T (hg19) ; chr17:g.63488774A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488774A>T , CM000679.2:g.63488774A>T	GRCh38
NC_000017.10:g.61566135A>T , CM000679.1:g.61566135A>T	GRCh37
NC_000017.9:g.58919867A>T	NCBI36
NG_011648.1:g.16702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2432A>T MANE Select	ENSP00000290866.4:p.Gln811Leu
ENST00000290863.10:c.710A>T	ENSP00000290863.6:p.Gln237Leu
ENST00000290866.9:c.2432A>T	ENSP00000290866.4:p.Gln811Leu
ENST00000413513.7:c.710A>T	ENSP00000392247.3:p.Gln237Leu
ENST00000428043.5:c.2432A>T	ENSP00000397593.2:p.Gln811Leu
ENST00000577647.2:c.710A>T	ENSP00000464149.1:p.Gln237Leu
ENST00000578839.5:c.*502A>T	ENSP00000462110.2:n.*502A>T
ENST00000579204.1:c.691A>T	ENSP00000464629.1:n.691A>T
ENST00000579314.5:c.*161A>T	ENSP00000462599.1:n.*161A>T
ENST00000582005.5:c.*352A>T	ENSP00000462002.1:n.*352A>T
ENST00000582761.1:c.200A>T	ENSP00000462909.1:p.Gln67Leu
ENST00000584865.5:n.378A>T
NM_000789.3:c.2432A>T	NP_000780.1:p.Gln811Leu
NM_001178057.1:c.710A>T	NP_001171528.1:p.Gln237Leu
NM_152830.2:c.710A>T	NP_690043.1:p.Gln237Leu
XM_005257110.1:c.1883A>T	XP_005257167.1:p.Gln628Leu
XM_006721737.2:c.770A>T	XP_006721800.2:p.Gln257Leu
XM_006721737.3:c.770A>T	XP_006721800.2:p.Gln257Leu
NM_000789.4:c.2432A>T MANE Select	NP_000780.1:p.Gln811Leu
NM_001178057.2:c.710A>T	NP_001171528.1:p.Gln237Leu
NM_152830.3:c.710A>T	NP_690043.1:p.Gln237Leu
NM_001382700.1:c.1865A>T	NP_001369629.1:p.Gln622Leu
NM_001382701.1:c.1580A>T	NP_001369630.1:p.Gln527Leu
NM_001382702.1:c.362A>T	NP_001369631.1:p.Gln121Leu
NR_168483.1:n.810A>T