Canonical Allele Identifier: CA1020203

Gene: AMPD1

Linked Data

• dbSNP Id: rs555338206
• ExAC: 1:115220601 C / A
• gnomAD: 1:115220601 C / A
• MyVariant Identifiers: chr1:g.115220601C>A (hg19) ; chr1:g.114677980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677980C>A , CM000663.2:g.114677980C>A	GRCh38
NC_000001.10:g.115220601C>A , CM000663.1:g.115220601C>A	GRCh37
NC_000001.9:g.115022124C>A	NCBI36
NG_008012.1:g.22576G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1142G>T	ENSP00000358551.4:p.Ser381Ile
ENST00000520113.7:c.1154G>T MANE Select	ENSP00000430075.3:p.Ser385Ile
ENST00000637080.1:n.937G>T	ENSP00000489753.1:n.937G>T
ENST00000639077.1:n.819G>T
ENST00000369538.3:c.1241G>T	ENSP00000358551.3:p.Ser414Ile
ENST00000520113.6:c.1253G>T	ENSP00000430075.2:p.Ser418Ile
NM_000036.2:c.1253G>T	NP_000027.2:p.Ser418Ile
NM_001172626.1:c.1241G>T	NP_001166097.1:p.Ser414Ile
NM_000036.3:c.1154G>T MANE Select	NP_000027.3:p.Ser385Ile
NM_001172626.2:c.1142G>T	NP_001166097.2:p.Ser381Ile