Canonical Allele Identifier: CA1020449

Gene: AMPD1

Linked Data

• dbSNP Id: rs762427086
• ExAC: 1:115227024 C / CAGGTAACAATT
• MyVariant Identifiers: chr1:g.115227024_115227025insAGGTAACAATT (hg19) ; chr1:g.114684403_114684404insAGGTAACAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684403_114684404insAGGTAACAATT , CM000663.2:g.114684403_114684404insAGGTAACAATT	GRCh38
NC_000001.10:g.115227024_115227025insAGGTAACAATT , CM000663.1:g.115227024_115227025insAGGTAACAATT	GRCh37
NC_000001.9:g.115028547_115028548insAGGTAACAATT	NCBI36
NG_008012.1:g.16152_16153insAATTGTTACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-40_370-39insAATTGTTACCT	ENSP00000358551.4:n.370-40_370-39insAATTGTTACCT
ENST00000520113.7:c.382-40_382-39insAATTGTTACCT MANE Select	ENSP00000430075.3:n.382-40_382-39insAATTGTTACCT
ENST00000637080.1:c.385-40_385-39insAATTGTTACCT	ENSP00000489753.1:n.385-40_385-39insAATTGTTACCT
ENST00000639077.1:n.47-40_47-39insAATTGTTACCT
ENST00000369538.3:c.469-40_469-39insAATTGTTACCT	ENSP00000358551.3:n.469-40_469-39insAATTGTTACCT
ENST00000485564.3:n.256-40_256-39insAATTGTTACCT
ENST00000520113.6:c.481-40_481-39insAATTGTTACCT	ENSP00000430075.2:n.481-40_481-39insAATTGTTACCT
NM_000036.2:c.481-40_481-39insAATTGTTACCT	NP_000027.2:n.481-40_481-39insAATTGTTACCT
NM_001172626.1:c.469-40_469-39insAATTGTTACCT	NP_001166097.1:n.469-40_469-39insAATTGTTACCT
NM_000036.3:c.382-40_382-39insAATTGTTACCT MANE Select	NP_000027.3:n.382-40_382-39insAATTGTTACCT
NM_001172626.2:c.370-40_370-39insAATTGTTACCT	NP_001166097.2:n.370-40_370-39insAATTGTTACCT