Canonical Allele Identifier: CA400558502

Gene: ACE

Linked Data

• gnomAD v4: 17-63489039-C-T
• COSMIC: COSM4481825 ; COSM4481826 ; COSM4481827
• MyVariant Identifiers: chr17:g.61566400C>T (hg19) ; chr17:g.63489039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489039C>T , CM000679.2:g.63489039C>T	GRCh38
NC_000017.10:g.61566400C>T , CM000679.1:g.61566400C>T	GRCh37
NC_000017.9:g.58920132C>T	NCBI36
NG_011648.1:g.16967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2548C>T MANE Select	ENSP00000290866.4:p.Leu850Phe
ENST00000290863.10:c.826C>T	ENSP00000290863.6:p.Leu276Phe
ENST00000290866.9:c.2548C>T	ENSP00000290866.4:p.Leu850Phe
ENST00000413513.7:c.826C>T	ENSP00000392247.3:p.Leu276Phe
ENST00000428043.5:c.2548C>T	ENSP00000397593.2:p.Leu850Phe
ENST00000577647.2:c.826C>T	ENSP00000464149.1:p.Leu276Phe
ENST00000578839.5:c.*519+248C>T	ENSP00000462110.2:n.*519+248C>T
ENST00000579204.1:c.807C>T	ENSP00000464629.1:n.807C>T
ENST00000579314.5:c.*277C>T	ENSP00000462599.1:n.*277C>T
ENST00000582005.5:c.*468C>T	ENSP00000462002.1:n.*468C>T
ENST00000582761.1:c.316C>T	ENSP00000462909.1:p.Leu106Phe
ENST00000584865.5:n.494C>T
NM_000789.3:c.2548C>T	NP_000780.1:p.Leu850Phe
NM_001178057.1:c.826C>T	NP_001171528.1:p.Leu276Phe
NM_152830.2:c.826C>T	NP_690043.1:p.Leu276Phe
XM_005257110.1:c.1999C>T	XP_005257167.1:p.Leu667Phe
XM_006721737.2:c.886C>T	XP_006721800.2:p.Leu296Phe
XM_006721737.3:c.886C>T	XP_006721800.2:p.Leu296Phe
NM_000789.4:c.2548C>T MANE Select	NP_000780.1:p.Leu850Phe
NM_001178057.2:c.826C>T	NP_001171528.1:p.Leu276Phe
NM_152830.3:c.826C>T	NP_690043.1:p.Leu276Phe
NM_001382700.1:c.1981C>T	NP_001369629.1:p.Leu661Phe
NM_001382701.1:c.1696C>T	NP_001369630.1:p.Leu566Phe
NM_001382702.1:c.379+248C>T	NP_001369631.1:n.379+248C>T
NR_168483.1:n.926C>T