Canonical Allele Identifier: CA400558169

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566326G>T (hg19) ; chr17:g.63488965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488965G>T , CM000679.2:g.63488965G>T	GRCh38
NC_000017.10:g.61566326G>T , CM000679.1:g.61566326G>T	GRCh37
NC_000017.9:g.58920058G>T	NCBI36
NG_011648.1:g.16893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2474G>T MANE Select	ENSP00000290866.4:p.Trp825Leu
ENST00000290863.10:c.752G>T	ENSP00000290863.6:p.Trp251Leu
ENST00000290866.9:c.2474G>T	ENSP00000290866.4:p.Trp825Leu
ENST00000413513.7:c.752G>T	ENSP00000392247.3:p.Trp251Leu
ENST00000428043.5:c.2474G>T	ENSP00000397593.2:p.Trp825Leu
ENST00000577647.2:c.752G>T	ENSP00000464149.1:p.Trp251Leu
ENST00000578839.5:c.*519+174G>T	ENSP00000462110.2:n.*519+174G>T
ENST00000579204.1:c.733G>T	ENSP00000464629.1:n.733G>T
ENST00000579314.5:c.*203G>T	ENSP00000462599.1:n.*203G>T
ENST00000582005.5:c.*394G>T	ENSP00000462002.1:n.*394G>T
ENST00000582761.1:c.242G>T	ENSP00000462909.1:p.Trp81Leu
ENST00000584865.5:n.420G>T
NM_000789.3:c.2474G>T	NP_000780.1:p.Trp825Leu
NM_001178057.1:c.752G>T	NP_001171528.1:p.Trp251Leu
NM_152830.2:c.752G>T	NP_690043.1:p.Trp251Leu
XM_005257110.1:c.1925G>T	XP_005257167.1:p.Trp642Leu
XM_006721737.2:c.812G>T	XP_006721800.2:p.Trp271Leu
XM_006721737.3:c.812G>T	XP_006721800.2:p.Trp271Leu
NM_000789.4:c.2474G>T MANE Select	NP_000780.1:p.Trp825Leu
NM_001178057.2:c.752G>T	NP_001171528.1:p.Trp251Leu
NM_152830.3:c.752G>T	NP_690043.1:p.Trp251Leu
NM_001382700.1:c.1907G>T	NP_001369629.1:p.Trp636Leu
NM_001382701.1:c.1622G>T	NP_001369630.1:p.Trp541Leu
NM_001382702.1:c.379+174G>T	NP_001369631.1:n.379+174G>T
NR_168483.1:n.852G>T