Canonical Allele Identifier: CA466673084

Gene: ELP1

Linked Data

• dbSNP Id: rs1344258480
• gnomAD v2: 9-111651636-G-A
• gnomAD v3: 9-108889356-G-A
• gnomAD v4: 9-108889356-G-A
• MyVariant Identifiers: chr9:g.111651636G>A (hg19) ; chr9:g.108889356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889356G>A , CM000671.2:g.108889356G>A	GRCh38
NC_000009.11:g.111651636G>A , CM000671.1:g.111651636G>A	GRCh37
NC_000009.10:g.110691457G>A	NCBI36
NG_008788.1:g.49973C>T , LRG_251:g.49973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3198C>T MANE Select	ENSP00000363779.5:p.Ala1066=
ENST00000495759.6:c.*1808C>T	ENSP00000433514.2:n.*1808C>T
ENST00000674535.1:c.3198C>T	ENSP00000502142.1:p.Ala1066=
ENST00000674704.1:n.6283C>T
ENST00000674836.1:n.3811C>T
ENST00000674890.1:c.*433C>T	ENSP00000501870.1:n.*433C>T
ENST00000674938.1:c.2856C>T	ENSP00000502427.1:p.Ala952=
ENST00000674948.1:c.2856C>T	ENSP00000501602.1:p.Ala952=
ENST00000675052.1:c.3198C>T	ENSP00000502664.1:p.Ala1066=
ENST00000675078.1:c.3198C>T	ENSP00000501549.1:p.Ala1066=
ENST00000675215.1:c.*2422C>T	ENSP00000502558.1:n.*2422C>T
ENST00000675233.1:n.5025C>T
ENST00000675321.1:c.3198C>T	ENSP00000502751.1:p.Ala1066=
ENST00000675325.1:n.5155C>T
ENST00000675335.1:c.3229C>T	ENSP00000502182.1:n.3229C>T
ENST00000675400.1:n.4933C>T
ENST00000675406.1:c.3198C>T	ENSP00000501893.1:p.Ala1066=
ENST00000675458.1:c.3291C>T	ENSP00000501754.1:n.3291C>T
ENST00000675507.1:n.4994C>T
ENST00000675535.1:c.*825C>T	ENSP00000501667.1:n.*825C>T
ENST00000675566.1:n.5056C>T
ENST00000675602.1:n.6246C>T
ENST00000675647.1:n.4362C>T
ENST00000675711.1:c.3198C>T	ENSP00000502485.1:p.Ala1066=
ENST00000675727.1:c.3198C>T	ENSP00000501722.1:p.Ala1066=
ENST00000675748.1:n.4832C>T
ENST00000675765.1:c.*581C>T	ENSP00000502640.1:n.*581C>T
ENST00000675825.1:c.3198C>T	ENSP00000502632.1:p.Ala1066=
ENST00000675877.1:n.3503C>T
ENST00000675893.1:c.*4267C>T	ENSP00000502001.1:n.*4267C>T
ENST00000675943.1:n.6813C>T
ENST00000675979.1:c.*2441C>T	ENSP00000502208.1:n.*2441C>T
ENST00000676044.1:c.*858C>T	ENSP00000502378.1:n.*858C>T
ENST00000676086.1:n.4983C>T
ENST00000676121.1:n.5026C>T
ENST00000676237.1:c.3099C>T	ENSP00000501828.1:p.Ala1033=
ENST00000676416.1:c.2856C>T	ENSP00000501660.1:p.Ala952=
ENST00000676424.1:n.4994C>T
ENST00000676429.1:n.7667C>T
ENST00000374647.9:c.3198C>T	ENSP00000363779.5:p.Ala1066=
ENST00000467959.1:n.78C>T
ENST00000495759.5:c.338C>T
ENST00000537196.1:c.2151C>T	ENSP00000439367.1:p.Ala717=
NM_003640.3:c.3198C>T , LRG_251t1:c.3198C>T	NP_003631.2:p.Ala1066=
XM_005252285.2:c.2856C>T	XP_005252342.1:p.Ala952=
XM_011519136.1:c.3198C>T	XP_011517438.1:p.Ala1066=
XM_011519137.1:c.2856C>T	XP_011517439.1:p.Ala952=
NM_001318360.1:c.2856C>T	NP_001305289.1:p.Ala952=
NM_001330749.1:c.2151C>T	NP_001317678.1:p.Ala717=
NM_003640.4:c.3198C>T	NP_003631.2:p.Ala1066=
XM_011519136.2:c.3198C>T	XP_011517438.1:p.Ala1066=
XR_929859.3:n.3587C>T
NM_003640.5:c.3198C>T MANE Select	NP_003631.2:p.Ala1066=
NM_001318360.2:c.2856C>T	NP_001305289.1:p.Ala952=
NM_001330749.2:c.2151C>T	NP_001317678.1:p.Ala717=