Canonical Allele Identifier: CA341558935

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171268G>T (hg19) ; chr1:g.109628646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628646G>T , CM000663.2:g.109628646G>T	GRCh38
NC_000001.10:g.110171268G>T , CM000663.1:g.110171268G>T	GRCh37
NC_000001.9:g.109972791G>T	NCBI36
NG_034075.1:g.13834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1411G>T	ENSP00000256578.4:p.Val471Leu
ENST00000358729.9:c.1411G>T	ENSP00000351573.5:p.Val471Leu
ENST00000369840.7:c.1411G>T	ENSP00000358855.3:p.Val471Leu
ENST00000474459.6:n.2030G>T
ENST00000476688.3:c.1093G>T	ENSP00000437025.2:p.Val365Leu
ENST00000486282.7:n.2367G>T
ENST00000524975.2:n.1892G>T
ENST00000525415.2:n.1927G>T
ENST00000526301.6:n.1474G>T
ENST00000527846.7:n.1266G>T
ENST00000528667.7:c.1411G>T MANE Select	ENSP00000436541.2:p.Val471Leu
ENST00000531203.6:c.1219G>T	ENSP00000431975.2:p.Val407Leu
ENST00000531734.6:c.1330G>T	ENSP00000433739.2:p.Val444Leu
ENST00000652975.2:c.*1163G>T	ENSP00000499620.2:n.*1163G>T
ENST00000654851.1:n.1253G>T
ENST00000655992.1:c.1219G>T	ENSP00000499740.1:p.Val407Leu
ENST00000659122.2:c.1407+151G>T	ENSP00000499621.2:n.1407+151G>T
ENST00000663749.1:c.*1158G>T	ENSP00000499739.1:n.*1158G>T
ENST00000667949.2:c.811G>T	ENSP00000499465.2:p.Val271Leu
ENST00000668421.1:c.*1352G>T	ENSP00000499362.1:n.*1352G>T
ENST00000679379.1:c.*1163G>T	ENSP00000505528.1:n.*1163G>T
ENST00000679593.1:c.1411G>T	ENSP00000505999.1:p.Val471Leu
ENST00000679880.1:n.1947G>T
ENST00000679892.1:c.*1179G>T	ENSP00000504882.1:n.*1179G>T
ENST00000679981.1:c.*1425G>T	ENSP00000506422.1:n.*1425G>T
ENST00000680132.1:c.*1361G>T	ENSP00000505950.1:n.*1361G>T
ENST00000680148.1:c.*1163G>T	ENSP00000505994.1:n.*1163G>T
ENST00000680170.1:n.2276G>T
ENST00000680192.1:n.2369G>T
ENST00000680519.1:n.1647G>T
ENST00000680531.1:c.*1158G>T	ENSP00000506332.1:n.*1158G>T
ENST00000680820.1:c.*1163G>T	ENSP00000505735.1:n.*1163G>T
ENST00000680832.1:c.*1511G>T	ENSP00000505774.1:n.*1511G>T
ENST00000680929.1:c.*1100G>T	ENSP00000504916.1:n.*1100G>T
ENST00000681108.1:c.*1245+151G>T	ENSP00000506701.1:n.*1245+151G>T
ENST00000681121.1:c.*521G>T	ENSP00000506466.1:n.*521G>T
ENST00000681132.1:c.*1177G>T	ENSP00000506195.1:n.*1177G>T
ENST00000681181.1:c.*1396G>T	ENSP00000506038.1:n.*1396G>T
ENST00000681218.1:c.*1684G>T	ENSP00000505976.1:n.*1684G>T
ENST00000681246.1:c.*1067G>T	ENSP00000505534.1:n.*1067G>T
ENST00000681496.1:c.*1684G>T	ENSP00000505948.1:n.*1684G>T
ENST00000681834.1:n.1750G>T
ENST00000681862.1:c.*1537G>T	ENSP00000505537.1:n.*1537G>T
ENST00000256578.7:c.1573G>T	ENSP00000256578.3:p.Val525Leu
ENST00000342115.8:c.1330G>T	ENSP00000345498.4:p.Val444Leu
ENST00000358729.8:c.1348G>T	ENSP00000351573.4:p.Val450Leu
ENST00000369840.6:c.1484G>T
ENST00000393688.7:c.1216G>T	ENSP00000377292.3:p.Val406Leu
ENST00000526301.5:n.1612G>T
ENST00000528454.5:c.1219G>T	ENSP00000437164.1:p.Val407Leu
ENST00000528667.5:c.1573G>T	ENSP00000436541.1:p.Val525Leu
ENST00000532851.1:n.121G>T
ENST00000533132.1:n.113G>T
NM_001257360.1:c.1573G>T	NP_001244289.1:p.Val525Leu
NM_001257361.1:c.1219G>T	NP_001244290.1:p.Val407Leu
NM_001308170.1:c.1348G>T	NP_001295099.1:p.Val450Leu
NM_004037.7:c.1573G>T	NP_004028.3:p.Val525Leu
NM_139156.3:c.1330G>T	NP_631895.1:p.Val444Leu
NM_203404.1:c.1216G>T	NP_981949.1:p.Val406Leu
XM_011541247.1:c.1786G>T	XP_011539549.1:p.Val596Leu
XM_011541248.1:c.1782+151G>T	XP_011539550.1:n.1782+151G>T
XR_946607.1:n.1809G>T
XM_024446431.1:c.1348G>T	XP_024302199.1:p.Val450Leu
XM_024446432.1:c.1430+151G>T	XP_024302200.1:n.1430+151G>T
XR_002956282.1:n.1984G>T
NM_001257360.2:c.1573G>T	NP_001244289.1:p.Val525Leu
NM_001368809.2:c.1411G>T MANE Select	NP_001355738.1:p.Val471Leu
NM_004037.9:c.1411G>T	NP_004028.4:p.Val471Leu
NM_001257361.2:c.1219G>T	NP_001244290.1:p.Val407Leu
NM_139156.4:c.1330G>T	NP_631895.1:p.Val444Leu