Canonical Allele Identifier: CA341749100

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220602T>G (hg19) ; chr1:g.114677981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677981T>G , CM000663.2:g.114677981T>G	GRCh38
NC_000001.10:g.115220602T>G , CM000663.1:g.115220602T>G	GRCh37
NC_000001.9:g.115022125T>G	NCBI36
NG_008012.1:g.22575A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1141A>C	ENSP00000358551.4:p.Ser381Arg
ENST00000520113.7:c.1153A>C MANE Select	ENSP00000430075.3:p.Ser385Arg
ENST00000637080.1:n.936A>C	ENSP00000489753.1:n.936A>C
ENST00000639077.1:n.818A>C
ENST00000369538.3:c.1240A>C	ENSP00000358551.3:p.Ser414Arg
ENST00000520113.6:c.1252A>C	ENSP00000430075.2:p.Ser418Arg
NM_000036.2:c.1252A>C	NP_000027.2:p.Ser418Arg
NM_001172626.1:c.1240A>C	NP_001166097.1:p.Ser414Arg
NM_000036.3:c.1153A>C MANE Select	NP_000027.3:p.Ser385Arg
NM_001172626.2:c.1141A>C	NP_001166097.2:p.Ser381Arg