Canonical Allele Identifier: CA400567028

Gene: ACE

Linked Data

• gnomAD v4: 17-63496870-G-C
• MyVariant Identifiers: chr17:g.61574231G>C (hg19) ; chr17:g.63496870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496870G>C , CM000679.2:g.63496870G>C	GRCh38
NC_000017.10:g.61574231G>C , CM000679.1:g.61574231G>C	GRCh37
NC_000017.9:g.58927963G>C	NCBI36
NG_011648.1:g.24798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3576G>C MANE Select	ENSP00000290866.4:p.Met1192Ile
ENST00000290863.10:c.1854G>C	ENSP00000290863.6:p.Met618Ile
ENST00000290866.9:c.3576G>C	ENSP00000290866.4:p.Met1192Ile
ENST00000413513.7:c.1731G>C	ENSP00000392247.3:p.Met577Ile
ENST00000428043.5:c.3576G>C	ENSP00000397593.2:p.Met1192Ile
ENST00000577418.5:n.586G>C
ENST00000577647.2:c.1854G>C	ENSP00000464149.1:p.Met618Ile
ENST00000578839.5:c.*1331G>C	ENSP00000462110.2:n.*1331G>C
ENST00000579314.5:c.*1305G>C	ENSP00000462599.1:n.*1305G>C
ENST00000579409.1:c.263G>C
ENST00000582244.1:n.450G>C
NM_000789.3:c.3576G>C	NP_000780.1:p.Met1192Ile
NM_001178057.1:c.1731G>C	NP_001171528.1:p.Met577Ile
NM_152830.2:c.1854G>C	NP_690043.1:p.Met618Ile
XM_005257110.1:c.3027G>C	XP_005257167.1:p.Met1009Ile
XM_006721737.2:c.1914G>C	XP_006721800.2:p.Met638Ile
XM_006721737.3:c.1914G>C	XP_006721800.2:p.Met638Ile
NM_000789.4:c.3576G>C MANE Select	NP_000780.1:p.Met1192Ile
NM_001178057.2:c.1731G>C	NP_001171528.1:p.Met577Ile
NM_152830.3:c.1854G>C	NP_690043.1:p.Met618Ile
NM_001382700.1:c.3009G>C	NP_001369629.1:p.Met1003Ile
NM_001382701.1:c.2724G>C	NP_001369630.1:p.Met908Ile
NM_001382702.1:c.1191G>C	NP_001369631.1:p.Met397Ile
NR_168483.1:n.1954G>C