Canonical Allele Identifier: CA341748951

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220535A>C (hg19) ; chr1:g.114677914A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677914A>C , CM000663.2:g.114677914A>C	GRCh38
NC_000001.10:g.115220535A>C , CM000663.1:g.115220535A>C	GRCh37
NC_000001.9:g.115022058A>C	NCBI36
NG_008012.1:g.22642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1208T>G	ENSP00000358551.4:p.Ile403Ser
ENST00000520113.7:c.1220T>G MANE Select	ENSP00000430075.3:p.Ile407Ser
ENST00000637080.1:c.1003T>G	ENSP00000489753.1:n.1003T>G
ENST00000639077.1:n.885T>G
ENST00000369538.3:c.1307T>G	ENSP00000358551.3:p.Ile436Ser
ENST00000520113.6:c.1319T>G	ENSP00000430075.2:p.Ile440Ser
NM_000036.2:c.1319T>G	NP_000027.2:p.Ile440Ser
NM_001172626.1:c.1307T>G	NP_001166097.1:p.Ile436Ser
NM_000036.3:c.1220T>G MANE Select	NP_000027.3:p.Ile407Ser
NM_001172626.2:c.1208T>G	NP_001166097.2:p.Ile403Ser