Canonical Allele Identifier: CA501342452

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574312G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496951G>C , CM000679.2:g.63496951G>C	GRCh38
NC_000017.10:g.61574312G>C , CM000679.1:g.61574312G>C	GRCh37
NC_000017.9:g.58928044G>C	NCBI36
NG_011648.1:g.24879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3657G>C MANE Select	ENSP00000290866.4:p.Leu1219=
ENST00000290863.10:c.1935G>C	ENSP00000290863.6:p.Leu645=
ENST00000290866.9:c.3657G>C	ENSP00000290866.4:p.Leu1219=
ENST00000413513.7:c.1812G>C	ENSP00000392247.3:p.Leu604=
ENST00000428043.5:c.3657G>C	ENSP00000397593.2:p.Leu1219=
ENST00000577418.5:n.667G>C
ENST00000577647.2:c.1935G>C	ENSP00000464149.1:p.Leu645=
ENST00000578839.5:c.*1412G>C	ENSP00000462110.2:n.*1412G>C
ENST00000579314.5:c.*1386G>C	ENSP00000462599.1:n.*1386G>C
ENST00000579409.1:c.344G>C
ENST00000582244.1:n.531G>C
NM_000789.3:c.3657G>C	NP_000780.1:p.Leu1219=
NM_001178057.1:c.1812G>C	NP_001171528.1:p.Leu604=
NM_152830.2:c.1935G>C	NP_690043.1:p.Leu645=
XM_005257110.1:c.3108G>C	XP_005257167.1:p.Leu1036=
XM_006721737.2:c.1995G>C	XP_006721800.2:p.Leu665=
XM_006721737.3:c.1995G>C	XP_006721800.2:p.Leu665=
NM_000789.4:c.3657G>C MANE Select	NP_000780.1:p.Leu1219=
NM_001178057.2:c.1812G>C	NP_001171528.1:p.Leu604=
NM_152830.3:c.1935G>C	NP_690043.1:p.Leu645=
NM_001382700.1:c.3090G>C	NP_001369629.1:p.Leu1030=
NM_001382701.1:c.2805G>C	NP_001369630.1:p.Leu935=
NM_001382702.1:c.1272G>C	NP_001369631.1:p.Leu424=
NR_168483.1:n.2035G>C