Canonical Allele Identifier: CA400557974

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566098C>A (hg19) ; chr17:g.63488737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488737C>A , CM000679.2:g.63488737C>A	GRCh38
NC_000017.10:g.61566098C>A , CM000679.1:g.61566098C>A	GRCh37
NC_000017.9:g.58919830C>A	NCBI36
NG_011648.1:g.16665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2395C>A MANE Select	ENSP00000290866.4:p.Leu799Ile
ENST00000290863.10:c.673C>A	ENSP00000290863.6:p.Leu225Ile
ENST00000290866.9:c.2395C>A	ENSP00000290866.4:p.Leu799Ile
ENST00000413513.7:c.673C>A	ENSP00000392247.3:p.Leu225Ile
ENST00000428043.5:c.2395C>A	ENSP00000397593.2:p.Leu799Ile
ENST00000577647.2:c.673C>A	ENSP00000464149.1:p.Leu225Ile
ENST00000578839.5:c.*465C>A	ENSP00000462110.2:n.*465C>A
ENST00000579204.1:c.654C>A	ENSP00000464629.1:n.654C>A
ENST00000579314.5:c.*124C>A	ENSP00000462599.1:n.*124C>A
ENST00000582005.5:c.*315C>A	ENSP00000462002.1:n.*315C>A
ENST00000582761.1:c.163C>A	ENSP00000462909.1:p.Leu55Ile
ENST00000584865.5:n.341C>A
NM_000789.3:c.2395C>A	NP_000780.1:p.Leu799Ile
NM_001178057.1:c.673C>A	NP_001171528.1:p.Leu225Ile
NM_152830.2:c.673C>A	NP_690043.1:p.Leu225Ile
XM_005257110.1:c.1846C>A	XP_005257167.1:p.Leu616Ile
XM_006721737.2:c.733C>A	XP_006721800.2:p.Leu245Ile
XM_006721737.3:c.733C>A	XP_006721800.2:p.Leu245Ile
NM_000789.4:c.2395C>A MANE Select	NP_000780.1:p.Leu799Ile
NM_001178057.2:c.673C>A	NP_001171528.1:p.Leu225Ile
NM_152830.3:c.673C>A	NP_690043.1:p.Leu225Ile
NM_001382700.1:c.1828C>A	NP_001369629.1:p.Leu610Ile
NM_001382701.1:c.1543C>A	NP_001369630.1:p.Leu515Ile
NM_001382702.1:c.325C>A	NP_001369631.1:p.Leu109Ile
NR_168483.1:n.773C>A