Canonical Allele Identifier: CA400568565

Gene: ACE

Linked Data

• gnomAD v4: 17-63497188-T-C
• MyVariant Identifiers: chr17:g.61574549T>C (hg19) ; chr17:g.63497188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497188T>C , CM000679.2:g.63497188T>C	GRCh38
NC_000017.10:g.61574549T>C , CM000679.1:g.61574549T>C	GRCh37
NC_000017.9:g.58928281T>C	NCBI36
NG_011648.1:g.25116T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3743T>C MANE Select	ENSP00000290866.4:p.Leu1248Pro
ENST00000290863.10:c.2021T>C	ENSP00000290863.6:p.Leu674Pro
ENST00000290866.9:c.3743T>C	ENSP00000290866.4:p.Leu1248Pro
ENST00000413513.7:c.1898T>C	ENSP00000392247.3:p.Leu633Pro
ENST00000428043.5:c.*165T>C	ENSP00000397593.2:n.*165T>C
ENST00000577647.2:c.1969+203T>C	ENSP00000464149.1:n.1969+203T>C
ENST00000578839.5:c.*1498T>C	ENSP00000462110.2:n.*1498T>C
ENST00000579314.5:c.*1472T>C	ENSP00000462599.1:n.*1472T>C
NM_000789.3:c.3743T>C	NP_000780.1:p.Leu1248Pro
NM_001178057.1:c.1898T>C	NP_001171528.1:p.Leu633Pro
NM_152830.2:c.2021T>C	NP_690043.1:p.Leu674Pro
XM_005257110.1:c.3194T>C	XP_005257167.1:p.Leu1065Pro
XM_006721737.2:c.2081T>C	XP_006721800.2:p.Leu694Pro
XM_006721737.3:c.2081T>C	XP_006721800.2:p.Leu694Pro
NM_000789.4:c.3743T>C MANE Select	NP_000780.1:p.Leu1248Pro
NM_001178057.2:c.1898T>C	NP_001171528.1:p.Leu633Pro
NM_152830.3:c.2021T>C	NP_690043.1:p.Leu674Pro
NM_001382700.1:c.3176T>C	NP_001369629.1:p.Leu1059Pro
NM_001382701.1:c.2891T>C	NP_001369630.1:p.Leu964Pro
NM_001382702.1:c.1358T>C	NP_001369631.1:p.Leu453Pro
NR_168483.1:n.2121T>C