Canonical Allele Identifier: CA400558460

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566392C>T (hg19) ; chr17:g.63489031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489031C>T , CM000679.2:g.63489031C>T	GRCh38
NC_000017.10:g.61566392C>T , CM000679.1:g.61566392C>T	GRCh37
NC_000017.9:g.58920124C>T	NCBI36
NG_011648.1:g.16959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2540C>T MANE Select	ENSP00000290866.4:p.Pro847Leu
ENST00000290863.10:c.818C>T	ENSP00000290863.6:p.Pro273Leu
ENST00000290866.9:c.2540C>T	ENSP00000290866.4:p.Pro847Leu
ENST00000413513.7:c.818C>T	ENSP00000392247.3:p.Pro273Leu
ENST00000428043.5:c.2540C>T	ENSP00000397593.2:p.Pro847Leu
ENST00000577647.2:c.818C>T	ENSP00000464149.1:p.Pro273Leu
ENST00000578839.5:c.*519+240C>T	ENSP00000462110.2:n.*519+240C>T
ENST00000579204.1:c.799C>T	ENSP00000464629.1:n.799C>T
ENST00000579314.5:c.*269C>T	ENSP00000462599.1:n.*269C>T
ENST00000582005.5:c.*460C>T	ENSP00000462002.1:n.*460C>T
ENST00000582761.1:c.308C>T	ENSP00000462909.1:p.Pro103Leu
ENST00000584865.5:n.486C>T
NM_000789.3:c.2540C>T	NP_000780.1:p.Pro847Leu
NM_001178057.1:c.818C>T	NP_001171528.1:p.Pro273Leu
NM_152830.2:c.818C>T	NP_690043.1:p.Pro273Leu
XM_005257110.1:c.1991C>T	XP_005257167.1:p.Pro664Leu
XM_006721737.2:c.878C>T	XP_006721800.2:p.Pro293Leu
XM_006721737.3:c.878C>T	XP_006721800.2:p.Pro293Leu
NM_000789.4:c.2540C>T MANE Select	NP_000780.1:p.Pro847Leu
NM_001178057.2:c.818C>T	NP_001171528.1:p.Pro273Leu
NM_152830.3:c.818C>T	NP_690043.1:p.Pro273Leu
NM_001382700.1:c.1973C>T	NP_001369629.1:p.Pro658Leu
NM_001382701.1:c.1688C>T	NP_001369630.1:p.Pro563Leu
NM_001382702.1:c.379+240C>T	NP_001369631.1:n.379+240C>T
NR_168483.1:n.918C>T