Canonical Allele Identifier: CA197520510

Gene: ELP1

Linked Data

• dbSNP Id: rs930535228
• gnomAD v3: 9-108879662-A-G
• gnomAD v4: 9-108879662-A-G
• MyVariant Identifiers: chr9:g.111641942A>G (hg19) ; chr9:g.108879662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879662A>G , CM000671.2:g.108879662A>G	GRCh38
NC_000009.11:g.111641942A>G , CM000671.1:g.111641942A>G	GRCh37
NC_000009.10:g.110681763A>G	NCBI36
NG_008788.1:g.59667T>C , LRG_251:g.59667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3461-105T>C MANE Select	ENSP00000363779.5:n.3461-105T>C
ENST00000495759.6:c.*2071-105T>C	ENSP00000433514.2:n.*2071-105T>C
ENST00000674535.1:c.3461-105T>C	ENSP00000502142.1:n.3461-105T>C
ENST00000674704.1:n.6546-105T>C
ENST00000674740.1:n.344-105T>C
ENST00000674836.1:n.4074-105T>C
ENST00000674890.1:c.*696-105T>C	ENSP00000501870.1:n.*696-105T>C
ENST00000674938.1:c.3119-105T>C	ENSP00000502427.1:n.3119-105T>C
ENST00000674948.1:c.3119-105T>C	ENSP00000501602.1:n.3119-105T>C
ENST00000675052.1:c.3461-105T>C	ENSP00000502664.1:n.3461-105T>C
ENST00000675062.1:n.507-105T>C
ENST00000675078.1:c.3461-105T>C	ENSP00000501549.1:n.3461-105T>C
ENST00000675215.1:c.*2685-105T>C	ENSP00000502558.1:n.*2685-105T>C
ENST00000675233.1:n.5288-105T>C
ENST00000675321.1:c.3460+390T>C	ENSP00000502751.1:n.3460+390T>C
ENST00000675325.1:n.5418-105T>C
ENST00000675335.1:c.3492-105T>C	ENSP00000502182.1:n.3492-105T>C
ENST00000675400.1:n.5313-105T>C
ENST00000675406.1:c.3461-105T>C	ENSP00000501893.1:n.3461-105T>C
ENST00000675458.1:c.3554-105T>C	ENSP00000501754.1:n.3554-105T>C
ENST00000675507.1:n.5257-105T>C
ENST00000675535.1:c.*1088-105T>C	ENSP00000501667.1:n.*1088-105T>C
ENST00000675566.1:n.5319-105T>C
ENST00000675580.1:n.614-105T>C
ENST00000675602.1:n.6509-105T>C
ENST00000675647.1:n.4625-105T>C
ENST00000675711.1:c.3578-105T>C	ENSP00000502485.1:n.3578-105T>C
ENST00000675727.1:c.3461-105T>C	ENSP00000501722.1:n.3461-105T>C
ENST00000675748.1:n.5095-105T>C
ENST00000675765.1:c.*844-105T>C	ENSP00000502640.1:n.*844-105T>C
ENST00000675825.1:c.3503-105T>C	ENSP00000502632.1:n.3503-105T>C
ENST00000675877.1:n.5305-105T>C
ENST00000675893.1:c.*4530-105T>C	ENSP00000502001.1:n.*4530-105T>C
ENST00000675943.1:n.7076-105T>C
ENST00000675979.1:c.*2704-105T>C	ENSP00000502208.1:n.*2704-105T>C
ENST00000676044.1:c.*1121-105T>C	ENSP00000502378.1:n.*1121-105T>C
ENST00000676086.1:n.5246-105T>C
ENST00000676121.1:n.5289-105T>C
ENST00000676162.1:n.190-105T>C
ENST00000676237.1:c.3404-105T>C	ENSP00000501828.1:n.3404-105T>C
ENST00000676416.1:c.3161-105T>C	ENSP00000501660.1:n.3161-105T>C
ENST00000676424.1:n.5299-105T>C
ENST00000676429.1:n.7930-105T>C
ENST00000374647.9:c.3461-105T>C	ENSP00000363779.5:n.3461-105T>C
ENST00000467959.1:n.341-105T>C
ENST00000495759.5:c.601-105T>C
ENST00000537196.1:c.2414-105T>C	ENSP00000439367.1:n.2414-105T>C
NM_003640.3:c.3461-105T>C , LRG_251t1:c.3461-105T>C	NP_003631.2:n.3461-105T>C
XM_005252285.2:c.3119-105T>C	XP_005252342.1:n.3119-105T>C
XM_011519136.1:c.3503-105T>C	XP_011517438.1:n.3503-105T>C
XM_011519137.1:c.3161-105T>C	XP_011517439.1:n.3161-105T>C
NM_001318360.1:c.3119-105T>C	NP_001305289.1:n.3119-105T>C
NM_001330749.1:c.2414-105T>C	NP_001317678.1:n.2414-105T>C
NM_003640.4:c.3461-105T>C	NP_003631.2:n.3461-105T>C
XM_011519136.2:c.3503-105T>C	XP_011517438.1:n.3503-105T>C
XR_929859.3:n.3850-105T>C
NM_003640.5:c.3461-105T>C MANE Select	NP_003631.2:n.3461-105T>C
NM_001318360.2:c.3119-105T>C	NP_001305289.1:n.3119-105T>C
NM_001330749.2:c.2414-105T>C	NP_001317678.1:n.2414-105T>C