Canonical Allele Identifier: CA400567325

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574260A>C (hg19) ; chr17:g.63496899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496899A>C , CM000679.2:g.63496899A>C	GRCh38
NC_000017.10:g.61574260A>C , CM000679.1:g.61574260A>C	GRCh37
NC_000017.9:g.58927992A>C	NCBI36
NG_011648.1:g.24827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3605A>C MANE Select	ENSP00000290866.4:p.Lys1202Thr
ENST00000290863.10:c.1883A>C	ENSP00000290863.6:p.Lys628Thr
ENST00000290866.9:c.3605A>C	ENSP00000290866.4:p.Lys1202Thr
ENST00000413513.7:c.1760A>C	ENSP00000392247.3:p.Lys587Thr
ENST00000428043.5:c.3605A>C	ENSP00000397593.2:p.Lys1202Thr
ENST00000577418.5:n.615A>C
ENST00000577647.2:c.1883A>C	ENSP00000464149.1:p.Lys628Thr
ENST00000578839.5:c.*1360A>C	ENSP00000462110.2:n.*1360A>C
ENST00000579314.5:c.*1334A>C	ENSP00000462599.1:n.*1334A>C
ENST00000579409.1:c.292A>C
ENST00000582244.1:n.479A>C
NM_000789.3:c.3605A>C	NP_000780.1:p.Lys1202Thr
NM_001178057.1:c.1760A>C	NP_001171528.1:p.Lys587Thr
NM_152830.2:c.1883A>C	NP_690043.1:p.Lys628Thr
XM_005257110.1:c.3056A>C	XP_005257167.1:p.Lys1019Thr
XM_006721737.2:c.1943A>C	XP_006721800.2:p.Lys648Thr
XM_006721737.3:c.1943A>C	XP_006721800.2:p.Lys648Thr
NM_000789.4:c.3605A>C MANE Select	NP_000780.1:p.Lys1202Thr
NM_001178057.2:c.1760A>C	NP_001171528.1:p.Lys587Thr
NM_152830.3:c.1883A>C	NP_690043.1:p.Lys628Thr
NM_001382700.1:c.3038A>C	NP_001369629.1:p.Lys1013Thr
NM_001382701.1:c.2753A>C	NP_001369630.1:p.Lys918Thr
NM_001382702.1:c.1220A>C	NP_001369631.1:p.Lys407Thr
NR_168483.1:n.1983A>C