Canonical Allele Identifier: CA400557882

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566055A>T (hg19) ; chr17:g.63488694A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488694A>T , CM000679.2:g.63488694A>T	GRCh38
NC_000017.10:g.61566055A>T , CM000679.1:g.61566055A>T	GRCh37
NC_000017.9:g.58919787A>T	NCBI36
NG_011648.1:g.16622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2352A>T MANE Select	ENSP00000290866.4:p.Leu784Phe
ENST00000290863.10:c.630A>T	ENSP00000290863.6:p.Leu210Phe
ENST00000290866.9:c.2352A>T	ENSP00000290866.4:p.Leu784Phe
ENST00000413513.7:c.630A>T	ENSP00000392247.3:p.Leu210Phe
ENST00000428043.5:c.2352A>T	ENSP00000397593.2:p.Leu784Phe
ENST00000577647.2:c.630A>T	ENSP00000464149.1:p.Leu210Phe
ENST00000578839.5:c.*422A>T	ENSP00000462110.2:n.*422A>T
ENST00000579204.1:c.611A>T	ENSP00000464629.1:n.611A>T
ENST00000579314.5:c.*81A>T	ENSP00000462599.1:n.*81A>T
ENST00000582005.5:c.*272A>T	ENSP00000462002.1:n.*272A>T
ENST00000582761.1:c.120A>T	ENSP00000462909.1:p.Leu40Phe
ENST00000584865.5:n.298A>T
NM_000789.3:c.2352A>T	NP_000780.1:p.Leu784Phe
NM_001178057.1:c.630A>T	NP_001171528.1:p.Leu210Phe
NM_152830.2:c.630A>T	NP_690043.1:p.Leu210Phe
XM_005257110.1:c.1803A>T	XP_005257167.1:p.Leu601Phe
XM_006721737.2:c.690A>T	XP_006721800.2:p.Leu230Phe
XM_006721737.3:c.690A>T	XP_006721800.2:p.Leu230Phe
NM_000789.4:c.2352A>T MANE Select	NP_000780.1:p.Leu784Phe
NM_001178057.2:c.630A>T	NP_001171528.1:p.Leu210Phe
NM_152830.3:c.630A>T	NP_690043.1:p.Leu210Phe
NM_001382700.1:c.1785A>T	NP_001369629.1:p.Leu595Phe
NM_001382701.1:c.1500A>T	NP_001369630.1:p.Leu500Phe
NM_001382702.1:c.282A>T	NP_001369631.1:p.Leu94Phe
NR_168483.1:n.730A>T