Canonical Allele Identifier: CA400569229

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574653A>C (hg19) ; chr17:g.63497292A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497292A>C , CM000679.2:g.63497292A>C	GRCh38
NC_000017.10:g.61574653A>C , CM000679.1:g.61574653A>C	GRCh37
NC_000017.9:g.58928385A>C	NCBI36
NG_011648.1:g.25220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3847A>C MANE Select	ENSP00000290866.4:p.Ile1283Leu
ENST00000290863.10:c.2125A>C	ENSP00000290863.6:p.Ile709Leu
ENST00000290866.9:c.3847A>C	ENSP00000290866.4:p.Ile1283Leu
ENST00000413513.7:c.2002A>C	ENSP00000392247.3:p.Ile668Leu
ENST00000428043.5:c.*269A>C	ENSP00000397593.2:n.*269A>C
ENST00000577647.2:c.1969+307A>C	ENSP00000464149.1:n.1969+307A>C
ENST00000578839.5:c.*1602A>C	ENSP00000462110.2:n.*1602A>C
ENST00000579314.5:c.*1576A>C	ENSP00000462599.1:n.*1576A>C
NM_000789.3:c.3847A>C	NP_000780.1:p.Ile1283Leu
NM_001178057.1:c.2002A>C	NP_001171528.1:p.Ile668Leu
NM_152830.2:c.2125A>C	NP_690043.1:p.Ile709Leu
XM_005257110.1:c.3298A>C	XP_005257167.1:p.Ile1100Leu
XM_006721737.2:c.2185A>C	XP_006721800.2:p.Ile729Leu
XM_006721737.3:c.2185A>C	XP_006721800.2:p.Ile729Leu
NM_000789.4:c.3847A>C MANE Select	NP_000780.1:p.Ile1283Leu
NM_001178057.2:c.2002A>C	NP_001171528.1:p.Ile668Leu
NM_152830.3:c.2125A>C	NP_690043.1:p.Ile709Leu
NM_001382700.1:c.3280A>C	NP_001369629.1:p.Ile1094Leu
NM_001382701.1:c.2995A>C	NP_001369630.1:p.Ile999Leu
NM_001382702.1:c.1462A>C	NP_001369631.1:p.Ile488Leu
NR_168483.1:n.2225A>C