Canonical Allele Identifier: CA400569407

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574668C>G (hg19) ; chr17:g.63497307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497307C>G , CM000679.2:g.63497307C>G	GRCh38
NC_000017.10:g.61574668C>G , CM000679.1:g.61574668C>G	GRCh37
NC_000017.9:g.58928400C>G	NCBI36
NG_011648.1:g.25235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3862C>G MANE Select	ENSP00000290866.4:p.Leu1288Val
ENST00000290863.10:c.2140C>G	ENSP00000290863.6:p.Leu714Val
ENST00000290866.9:c.3862C>G	ENSP00000290866.4:p.Leu1288Val
ENST00000413513.7:c.2017C>G	ENSP00000392247.3:p.Leu673Val
ENST00000428043.5:c.*284C>G	ENSP00000397593.2:n.*284C>G
ENST00000577647.2:c.1969+322C>G	ENSP00000464149.1:n.1969+322C>G
ENST00000578839.5:c.*1617C>G	ENSP00000462110.2:n.*1617C>G
ENST00000579314.5:c.*1591C>G	ENSP00000462599.1:n.*1591C>G
NM_000789.3:c.3862C>G	NP_000780.1:p.Leu1288Val
NM_001178057.1:c.2017C>G	NP_001171528.1:p.Leu673Val
NM_152830.2:c.2140C>G	NP_690043.1:p.Leu714Val
XM_005257110.1:c.3313C>G	XP_005257167.1:p.Leu1105Val
XM_006721737.2:c.2200C>G	XP_006721800.2:p.Leu734Val
XM_006721737.3:c.2200C>G	XP_006721800.2:p.Leu734Val
NM_000789.4:c.3862C>G MANE Select	NP_000780.1:p.Leu1288Val
NM_001178057.2:c.2017C>G	NP_001171528.1:p.Leu673Val
NM_152830.3:c.2140C>G	NP_690043.1:p.Leu714Val
NM_001382700.1:c.3295C>G	NP_001369629.1:p.Leu1099Val
NM_001382701.1:c.3010C>G	NP_001369630.1:p.Leu1004Val
NM_001382702.1:c.1477C>G	NP_001369631.1:p.Leu493Val
NR_168483.1:n.2240C>G