Canonical Allele Identifier: CA400556686

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564370G>T (hg19) ; chr17:g.63487009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487009G>T , CM000679.2:g.63487009G>T	GRCh38
NC_000017.10:g.61564370G>T , CM000679.1:g.61564370G>T	GRCh37
NC_000017.9:g.58918102G>T	NCBI36
NG_011648.1:g.14937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2241G>T MANE Select	ENSP00000290866.4:p.Met747Ile
ENST00000290863.10:c.519G>T	ENSP00000290863.6:p.Met173Ile
ENST00000290866.9:c.2241G>T	ENSP00000290866.4:p.Met747Ile
ENST00000413513.7:c.519G>T	ENSP00000392247.3:p.Met173Ile
ENST00000428043.5:c.2241G>T	ENSP00000397593.2:p.Met747Ile
ENST00000577647.2:c.519G>T	ENSP00000464149.1:p.Met173Ile
ENST00000578839.5:c.*311G>T	ENSP00000462110.2:n.*311G>T
ENST00000579204.1:c.422G>T	ENSP00000464629.1:n.422G>T
ENST00000579314.5:c.519G>T	ENSP00000462599.1:p.Met173Ile
ENST00000579726.5:c.803G>T
ENST00000582005.5:c.*161G>T	ENSP00000462002.1:n.*161G>T
ENST00000582761.1:c.9G>T	ENSP00000462909.1:p.Met3Ile
ENST00000584865.5:n.187G>T
NM_000789.3:c.2241G>T	NP_000780.1:p.Met747Ile
NM_001178057.1:c.519G>T	NP_001171528.1:p.Met173Ile
NM_152830.2:c.519G>T	NP_690043.1:p.Met173Ile
XM_005257110.1:c.1692G>T	XP_005257167.1:p.Met564Ile
XM_006721737.2:c.579G>T	XP_006721800.2:p.Met193Ile
XM_006721737.3:c.579G>T	XP_006721800.2:p.Met193Ile
NM_000789.4:c.2241G>T MANE Select	NP_000780.1:p.Met747Ile
NM_001178057.2:c.519G>T	NP_001171528.1:p.Met173Ile
NM_152830.3:c.519G>T	NP_690043.1:p.Met173Ile
NM_001382700.1:c.1674G>T	NP_001369629.1:p.Met558Ile
NM_001382701.1:c.1389G>T	NP_001369630.1:p.Met463Ile
NM_001382702.1:c.171G>T	NP_001369631.1:p.Met57Ile
NR_168483.1:n.541G>T