Canonical Allele Identifier: CA10650620

Gene: ACE

Linked Data

• ClinVar Variation Id: 324392
• ClinVar RCV Id: RCV000337597
• dbSNP Id: rs886053223
• MyVariant Identifiers: chr17:g.61566012T>C (hg19) ; chr17:g.63488651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488651T>C , CM000679.2:g.63488651T>C	GRCh38
NC_000017.10:g.61566012T>C , CM000679.1:g.61566012T>C	GRCh37
NC_000017.9:g.58919744T>C	NCBI36
NG_011648.1:g.16579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2309T>C MANE Select	ENSP00000290866.4:p.Leu770Pro
ENST00000290863.10:c.587T>C	ENSP00000290863.6:p.Leu196Pro
ENST00000290866.9:c.2309T>C	ENSP00000290866.4:p.Leu770Pro
ENST00000413513.7:c.587T>C	ENSP00000392247.3:p.Leu196Pro
ENST00000428043.5:c.2309T>C	ENSP00000397593.2:p.Leu770Pro
ENST00000577647.2:c.587T>C	ENSP00000464149.1:p.Leu196Pro
ENST00000578839.5:c.*379T>C	ENSP00000462110.2:n.*379T>C
ENST00000579204.1:c.568T>C	ENSP00000464629.1:n.568T>C
ENST00000579314.5:c.*38T>C	ENSP00000462599.1:n.*38T>C
ENST00000582005.5:c.*229T>C	ENSP00000462002.1:n.*229T>C
ENST00000582761.1:c.77T>C	ENSP00000462909.1:p.Leu26Pro
ENST00000584865.5:n.255T>C
NM_000789.3:c.2309T>C	NP_000780.1:p.Leu770Pro
NM_001178057.1:c.587T>C	NP_001171528.1:p.Leu196Pro
NM_152830.2:c.587T>C	NP_690043.1:p.Leu196Pro
XM_005257110.1:c.1760T>C	XP_005257167.1:p.Leu587Pro
XM_006721737.2:c.647T>C	XP_006721800.2:p.Leu216Pro
XM_006721737.3:c.647T>C	XP_006721800.2:p.Leu216Pro
NM_000789.4:c.2309T>C MANE Select	NP_000780.1:p.Leu770Pro
NM_001178057.2:c.587T>C	NP_001171528.1:p.Leu196Pro
NM_152830.3:c.587T>C	NP_690043.1:p.Leu196Pro
NM_001382700.1:c.1742T>C	NP_001369629.1:p.Leu581Pro
NM_001382701.1:c.1457T>C	NP_001369630.1:p.Leu486Pro
NM_001382702.1:c.239T>C	NP_001369631.1:p.Leu80Pro
NR_168483.1:n.687T>C