Canonical Allele Identifier: CA10628743

Gene: ELP1

Linked Data

• ClinVar Variation Id: 364544
• ClinVar RCV Id: RCV000382974
• dbSNP Id: rs746907451
• gnomAD v2: 9-111630271-G-A
• gnomAD v3: 9-108867991-G-A
• gnomAD v4: 9-108867991-G-A
• MyVariant Identifiers: chr9:g.111630271G>A (hg19) ; chr9:g.108867991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108867991G>A , CM000671.2:g.108867991G>A	GRCh38
NC_000009.11:g.111630271G>A , CM000671.1:g.111630271G>A	GRCh37
NC_000009.10:g.110670092G>A	NCBI36
NG_008788.1:g.71338C>T , LRG_251:g.71338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.*1124C>T MANE Select	ENSP00000363779.5:n.*1124C>T
ENST00000495759.6:c.*3733C>T	ENSP00000433514.2:n.*3733C>T
ENST00000674704.1:n.8208C>T
ENST00000674740.1:n.2006C>T
ENST00000674836.1:n.5736C>T
ENST00000674890.1:c.*2358C>T	ENSP00000501870.1:n.*2358C>T
ENST00000674938.1:c.*1124C>T	ENSP00000502427.1:n.*1124C>T
ENST00000674948.1:c.*1124C>T	ENSP00000501602.1:n.*1124C>T
ENST00000675078.1:c.*1326C>T	ENSP00000501549.1:n.*1326C>T
ENST00000675215.1:c.*4347C>T	ENSP00000502558.1:n.*4347C>T
ENST00000675233.1:n.6950C>T
ENST00000675325.1:n.7080C>T
ENST00000675400.1:n.6975C>T
ENST00000675406.1:c.*1124C>T	ENSP00000501893.1:n.*1124C>T
ENST00000675535.1:c.*2750C>T	ENSP00000501667.1:n.*2750C>T
ENST00000675580.1:n.2276C>T
ENST00000675602.1:n.8171C>T
ENST00000675647.1:n.6287C>T
ENST00000675748.1:n.6757C>T
ENST00000675765.1:c.*2506C>T	ENSP00000502640.1:n.*2506C>T
ENST00000675825.1:c.*1124C>T	ENSP00000502632.1:n.*1124C>T
ENST00000675877.1:n.6967C>T
ENST00000675893.1:c.*6192C>T	ENSP00000502001.1:n.*6192C>T
ENST00000675943.1:n.8738C>T
ENST00000675979.1:c.*4366C>T	ENSP00000502208.1:n.*4366C>T
ENST00000676044.1:c.*2783C>T	ENSP00000502378.1:n.*2783C>T
ENST00000676086.1:n.6908C>T
ENST00000676121.1:n.6951C>T
ENST00000676237.1:c.*1124C>T	ENSP00000501828.1:n.*1124C>T
ENST00000676416.1:c.*1124C>T	ENSP00000501660.1:n.*1124C>T
ENST00000676424.1:n.6961C>T
ENST00000676429.1:n.9592C>T
ENST00000374647.9:c.*1124C>T	ENSP00000363779.5:n.*1124C>T
ENST00000495759.5:c.2366C>T
NM_003640.3:c.*1124C>T , LRG_251t1:c.*1124C>T	NP_003631.2:n.*1124C>T
NM_001318360.1:c.*1124C>T	NP_001305289.1:n.*1124C>T
NM_001330749.1:c.*1124C>T	NP_001317678.1:n.*1124C>T
NM_003640.4:c.*1124C>T	NP_003631.2:n.*1124C>T
NM_003640.5:c.*1124C>T MANE Select	NP_003631.2:n.*1124C>T
NM_001318360.2:c.*1124C>T	NP_001305289.1:n.*1124C>T
NM_001330749.2:c.*1124C>T	NP_001317678.1:n.*1124C>T