Canonical Allele Identifier: CA400558055

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566134C>T (hg19) ; chr17:g.63488773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488773C>T , CM000679.2:g.63488773C>T	GRCh38
NC_000017.10:g.61566134C>T , CM000679.1:g.61566134C>T	GRCh37
NC_000017.9:g.58919866C>T	NCBI36
NG_011648.1:g.16701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2431C>T MANE Select	ENSP00000290866.4:p.Gln811Ter
ENST00000290863.10:c.709C>T	ENSP00000290863.6:p.Gln237Ter
ENST00000290866.9:c.2431C>T	ENSP00000290866.4:p.Gln811Ter
ENST00000413513.7:c.709C>T	ENSP00000392247.3:p.Gln237Ter
ENST00000428043.5:c.2431C>T	ENSP00000397593.2:p.Gln811Ter
ENST00000577647.2:c.709C>T	ENSP00000464149.1:p.Gln237Ter
ENST00000578839.5:c.*501C>T	ENSP00000462110.2:n.*501C>T
ENST00000579204.1:c.690C>T	ENSP00000464629.1:n.690C>T
ENST00000579314.5:c.*160C>T	ENSP00000462599.1:n.*160C>T
ENST00000582005.5:c.*351C>T	ENSP00000462002.1:n.*351C>T
ENST00000582761.1:c.199C>T	ENSP00000462909.1:p.Gln67Ter
ENST00000584865.5:n.377C>T
NM_000789.3:c.2431C>T	NP_000780.1:p.Gln811Ter
NM_001178057.1:c.709C>T	NP_001171528.1:p.Gln237Ter
NM_152830.2:c.709C>T	NP_690043.1:p.Gln237Ter
XM_005257110.1:c.1882C>T	XP_005257167.1:p.Gln628Ter
XM_006721737.2:c.769C>T	XP_006721800.2:p.Gln257Ter
XM_006721737.3:c.769C>T	XP_006721800.2:p.Gln257Ter
NM_000789.4:c.2431C>T MANE Select	NP_000780.1:p.Gln811Ter
NM_001178057.2:c.709C>T	NP_001171528.1:p.Gln237Ter
NM_152830.3:c.709C>T	NP_690043.1:p.Gln237Ter
NM_001382700.1:c.1864C>T	NP_001369629.1:p.Gln622Ter
NM_001382701.1:c.1579C>T	NP_001369630.1:p.Gln527Ter
NM_001382702.1:c.361C>T	NP_001369631.1:p.Gln121Ter
NR_168483.1:n.809C>T