Canonical Allele Identifier: CA400558349

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566374T>C (hg19) ; chr17:g.63489013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489013T>C , CM000679.2:g.63489013T>C	GRCh38
NC_000017.10:g.61566374T>C , CM000679.1:g.61566374T>C	GRCh37
NC_000017.9:g.58920106T>C	NCBI36
NG_011648.1:g.16941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2522T>C MANE Select	ENSP00000290866.4:p.Leu841Pro
ENST00000290863.10:c.800T>C	ENSP00000290863.6:p.Leu267Pro
ENST00000290866.9:c.2522T>C	ENSP00000290866.4:p.Leu841Pro
ENST00000413513.7:c.800T>C	ENSP00000392247.3:p.Leu267Pro
ENST00000428043.5:c.2522T>C	ENSP00000397593.2:p.Leu841Pro
ENST00000577647.2:c.800T>C	ENSP00000464149.1:p.Leu267Pro
ENST00000578839.5:c.*519+222T>C	ENSP00000462110.2:n.*519+222T>C
ENST00000579204.1:c.781T>C	ENSP00000464629.1:n.781T>C
ENST00000579314.5:c.*251T>C	ENSP00000462599.1:n.*251T>C
ENST00000582005.5:c.*442T>C	ENSP00000462002.1:n.*442T>C
ENST00000582761.1:c.290T>C	ENSP00000462909.1:p.Leu97Pro
ENST00000584865.5:n.468T>C
NM_000789.3:c.2522T>C	NP_000780.1:p.Leu841Pro
NM_001178057.1:c.800T>C	NP_001171528.1:p.Leu267Pro
NM_152830.2:c.800T>C	NP_690043.1:p.Leu267Pro
XM_005257110.1:c.1973T>C	XP_005257167.1:p.Leu658Pro
XM_006721737.2:c.860T>C	XP_006721800.2:p.Leu287Pro
XM_006721737.3:c.860T>C	XP_006721800.2:p.Leu287Pro
NM_000789.4:c.2522T>C MANE Select	NP_000780.1:p.Leu841Pro
NM_001178057.2:c.800T>C	NP_001171528.1:p.Leu267Pro
NM_152830.3:c.800T>C	NP_690043.1:p.Leu267Pro
NM_001382700.1:c.1955T>C	NP_001369629.1:p.Leu652Pro
NM_001382701.1:c.1670T>C	NP_001369630.1:p.Leu557Pro
NM_001382702.1:c.379+222T>C	NP_001369631.1:n.379+222T>C
NR_168483.1:n.900T>C