Canonical Allele Identifier: CA341559099

Gene: AMPD2

Linked Data

• gnomAD v4: 1-109628719-A-T
• MyVariant Identifiers: chr1:g.110171341A>T (hg19) ; chr1:g.109628719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628719A>T , CM000663.2:g.109628719A>T	GRCh38
NC_000001.10:g.110171341A>T , CM000663.1:g.110171341A>T	GRCh37
NC_000001.9:g.109972864A>T	NCBI36
NG_034075.1:g.13907A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1484A>T	ENSP00000256578.4:p.Asp495Val
ENST00000358729.9:c.1484A>T	ENSP00000351573.5:p.Asp495Val
ENST00000369840.7:c.1484A>T	ENSP00000358855.3:p.Asp495Val
ENST00000474459.6:n.2103A>T
ENST00000476688.3:c.1166A>T	ENSP00000437025.2:p.Asp389Val
ENST00000486282.7:n.2440A>T
ENST00000524975.2:n.1965A>T
ENST00000525415.2:n.2000A>T
ENST00000526301.6:n.1547A>T
ENST00000527846.7:n.1339A>T
ENST00000528667.7:c.1484A>T MANE Select	ENSP00000436541.2:p.Asp495Val
ENST00000531203.6:c.1292A>T	ENSP00000431975.2:p.Asp431Val
ENST00000531734.6:c.1403A>T	ENSP00000433739.2:p.Asp468Val
ENST00000652975.2:c.*1236A>T	ENSP00000499620.2:n.*1236A>T
ENST00000654851.1:n.1326A>T
ENST00000655992.1:c.1292A>T	ENSP00000499740.1:p.Asp431Val
ENST00000659122.2:c.1407+224A>T	ENSP00000499621.2:n.1407+224A>T
ENST00000663749.1:c.*1231A>T	ENSP00000499739.1:n.*1231A>T
ENST00000667949.2:c.884A>T	ENSP00000499465.2:p.Asp295Val
ENST00000668421.1:c.*1425A>T	ENSP00000499362.1:n.*1425A>T
ENST00000679379.1:c.*1236A>T	ENSP00000505528.1:n.*1236A>T
ENST00000679593.1:c.1484A>T	ENSP00000505999.1:p.Asp495Val
ENST00000679880.1:n.2020A>T
ENST00000679892.1:c.*1252A>T	ENSP00000504882.1:n.*1252A>T
ENST00000679981.1:c.*1498A>T	ENSP00000506422.1:n.*1498A>T
ENST00000680132.1:c.*1434A>T	ENSP00000505950.1:n.*1434A>T
ENST00000680148.1:c.*1236A>T	ENSP00000505994.1:n.*1236A>T
ENST00000680170.1:n.2349A>T
ENST00000680192.1:n.2442A>T
ENST00000680519.1:n.1720A>T
ENST00000680531.1:c.*1231A>T	ENSP00000506332.1:n.*1231A>T
ENST00000680820.1:c.*1236A>T	ENSP00000505735.1:n.*1236A>T
ENST00000680832.1:c.*1584A>T	ENSP00000505774.1:n.*1584A>T
ENST00000680929.1:c.*1173A>T	ENSP00000504916.1:n.*1173A>T
ENST00000681108.1:c.*1245+224A>T	ENSP00000506701.1:n.*1245+224A>T
ENST00000681121.1:c.*594A>T	ENSP00000506466.1:n.*594A>T
ENST00000681132.1:c.*1250A>T	ENSP00000506195.1:n.*1250A>T
ENST00000681181.1:c.*1469A>T	ENSP00000506038.1:n.*1469A>T
ENST00000681218.1:c.*1757A>T	ENSP00000505976.1:n.*1757A>T
ENST00000681246.1:c.*1140A>T	ENSP00000505534.1:n.*1140A>T
ENST00000681496.1:c.*1757A>T	ENSP00000505948.1:n.*1757A>T
ENST00000681834.1:n.1823A>T
ENST00000681862.1:c.*1610A>T	ENSP00000505537.1:n.*1610A>T
ENST00000256578.7:c.1646A>T	ENSP00000256578.3:p.Asp549Val
ENST00000342115.8:c.1403A>T	ENSP00000345498.4:p.Asp468Val
ENST00000358729.8:c.1421A>T	ENSP00000351573.4:p.Asp474Val
ENST00000369840.6:c.1557A>T
ENST00000393688.7:c.1289A>T	ENSP00000377292.3:p.Asp430Val
ENST00000467071.1:n.6A>T
ENST00000526301.5:n.1685A>T
ENST00000528454.5:c.1292A>T	ENSP00000437164.1:p.Asp431Val
ENST00000528667.5:c.1646A>T	ENSP00000436541.1:p.Asp549Val
ENST00000532851.1:n.194A>T
ENST00000533132.1:n.186A>T
NM_001257360.1:c.1646A>T	NP_001244289.1:p.Asp549Val
NM_001257361.1:c.1292A>T	NP_001244290.1:p.Asp431Val
NM_001308170.1:c.1421A>T	NP_001295099.1:p.Asp474Val
NM_004037.7:c.1646A>T	NP_004028.3:p.Asp549Val
NM_139156.3:c.1403A>T	NP_631895.1:p.Asp468Val
NM_203404.1:c.1289A>T	NP_981949.1:p.Asp430Val
XM_011541247.1:c.1859A>T	XP_011539549.1:p.Asp620Val
XM_011541248.1:c.1782+224A>T	XP_011539550.1:n.1782+224A>T
XR_946607.1:n.1882A>T
XM_024446431.1:c.1421A>T	XP_024302199.1:p.Asp474Val
XM_024446432.1:c.1430+224A>T	XP_024302200.1:n.1430+224A>T
XR_002956282.1:n.2057A>T
NM_001257360.2:c.1646A>T	NP_001244289.1:p.Asp549Val
NM_001368809.2:c.1484A>T MANE Select	NP_001355738.1:p.Asp495Val
NM_004037.9:c.1484A>T	NP_004028.4:p.Asp495Val
NM_001257361.2:c.1292A>T	NP_001244290.1:p.Asp431Val
NM_139156.4:c.1403A>T	NP_631895.1:p.Asp468Val