Canonical Allele Identifier: CA419883063

Gene: AMPD1

Linked Data

• dbSNP Id: rs1557969311
• COSMIC: COSM3471654 ; COSM3471655
• MyVariant Identifiers: chr1:g.115220120G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677499G>A , CM000663.2:g.114677499G>A	GRCh38
NC_000001.10:g.115220120G>A , CM000663.1:g.115220120G>A	GRCh37
NC_000001.9:g.115021643G>A	NCBI36
NG_008012.1:g.23057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1228C>T	ENSP00000358551.4:p.Leu410=
ENST00000520113.7:c.1240C>T MANE Select	ENSP00000430075.3:p.Leu414=
ENST00000637080.1:c.1023C>T	ENSP00000489753.1:n.1023C>T
ENST00000639077.1:n.905C>T
ENST00000369538.3:c.1327C>T	ENSP00000358551.3:p.Leu443=
ENST00000520113.6:c.1339C>T	ENSP00000430075.2:p.Leu447=
NM_000036.2:c.1339C>T	NP_000027.2:p.Leu447=
NM_001172626.1:c.1327C>T	NP_001166097.1:p.Leu443=
NM_000036.3:c.1240C>T MANE Select	NP_000027.3:p.Leu414=
NM_001172626.2:c.1228C>T	NP_001166097.2:p.Leu410=