Canonical Allele Identifier: CA341748711

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220106C>A (hg19) ; chr1:g.114677485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677485C>A , CM000663.2:g.114677485C>A	GRCh38
NC_000001.10:g.115220106C>A , CM000663.1:g.115220106C>A	GRCh37
NC_000001.9:g.115021629C>A	NCBI36
NG_008012.1:g.23071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1242G>T	ENSP00000358551.4:p.Lys414Asn
ENST00000520113.7:c.1254G>T MANE Select	ENSP00000430075.3:p.Lys418Asn
ENST00000637080.1:c.1037G>T	ENSP00000489753.1:n.1037G>T
ENST00000639077.1:n.919G>T
ENST00000369538.3:c.1341G>T	ENSP00000358551.3:p.Lys447Asn
ENST00000520113.6:c.1353G>T	ENSP00000430075.2:p.Lys451Asn
NM_000036.2:c.1353G>T	NP_000027.2:p.Lys451Asn
NM_001172626.1:c.1341G>T	NP_001166097.1:p.Lys447Asn
NM_000036.3:c.1254G>T MANE Select	NP_000027.3:p.Lys418Asn
NM_001172626.2:c.1242G>T	NP_001166097.2:p.Lys414Asn