Canonical Allele Identifier: CA341749120

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658051370
• gnomAD v4: 1-114677993-G-A
• MyVariant Identifiers: chr1:g.115220614G>A (hg19) ; chr1:g.114677993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677993G>A , CM000663.2:g.114677993G>A	GRCh38
NC_000001.10:g.115220614G>A , CM000663.1:g.115220614G>A	GRCh37
NC_000001.9:g.115022137G>A	NCBI36
NG_008012.1:g.22563C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1129C>T	ENSP00000358551.4:p.Pro377Ser
ENST00000520113.7:c.1141C>T MANE Select	ENSP00000430075.3:p.Pro381Ser
ENST00000637080.1:c.924C>T	ENSP00000489753.1:n.924C>T
ENST00000639077.1:n.806C>T
ENST00000369538.3:c.1228C>T	ENSP00000358551.3:p.Pro410Ser
ENST00000520113.6:c.1240C>T	ENSP00000430075.2:p.Pro414Ser
NM_000036.2:c.1240C>T	NP_000027.2:p.Pro414Ser
NM_001172626.1:c.1228C>T	NP_001166097.1:p.Pro410Ser
NM_000036.3:c.1141C>T MANE Select	NP_000027.3:p.Pro381Ser
NM_001172626.2:c.1129C>T	NP_001166097.2:p.Pro377Ser