Canonical Allele Identifier: CA501185286

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564361G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487000G>T , CM000679.2:g.63487000G>T	GRCh38
NC_000017.10:g.61564361G>T , CM000679.1:g.61564361G>T	GRCh37
NC_000017.9:g.58918093G>T	NCBI36
NG_011648.1:g.14928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2232G>T MANE Select	ENSP00000290866.4:p.Leu744=
ENST00000290863.10:c.510G>T	ENSP00000290863.6:p.Leu170=
ENST00000290866.9:c.2232G>T	ENSP00000290866.4:p.Leu744=
ENST00000413513.7:c.510G>T	ENSP00000392247.3:p.Leu170=
ENST00000428043.5:c.2232G>T	ENSP00000397593.2:p.Leu744=
ENST00000577647.2:c.510G>T	ENSP00000464149.1:p.Leu170=
ENST00000578839.5:c.*302G>T	ENSP00000462110.2:n.*302G>T
ENST00000579204.1:c.413G>T	ENSP00000464629.1:n.413G>T
ENST00000579314.5:c.510G>T	ENSP00000462599.1:p.Leu170=
ENST00000579726.5:c.794G>T
ENST00000582005.5:c.*152G>T	ENSP00000462002.1:n.*152G>T
ENST00000584865.5:n.178G>T
NM_000789.3:c.2232G>T	NP_000780.1:p.Leu744=
NM_001178057.1:c.510G>T	NP_001171528.1:p.Leu170=
NM_152830.2:c.510G>T	NP_690043.1:p.Leu170=
XM_005257110.1:c.1683G>T	XP_005257167.1:p.Leu561=
XM_006721737.2:c.570G>T	XP_006721800.2:p.Leu190=
XM_006721737.3:c.570G>T	XP_006721800.2:p.Leu190=
NM_000789.4:c.2232G>T MANE Select	NP_000780.1:p.Leu744=
NM_001178057.2:c.510G>T	NP_001171528.1:p.Leu170=
NM_152830.3:c.510G>T	NP_690043.1:p.Leu170=
NM_001382700.1:c.1665G>T	NP_001369629.1:p.Leu555=
NM_001382701.1:c.1380G>T	NP_001369630.1:p.Leu460=
NM_001382702.1:c.162G>T	NP_001369631.1:p.Leu54=
NR_168483.1:n.532G>T