Canonical Allele Identifier: CA374420203
Community Standard Title: NM_003640.5(ELP1):c.2588-2A>G
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108896646T>C , CM000671.2:g.108896646T>C GRCh38
NC_000009.11:g.111658926T>C , CM000671.1:g.111658926T>C GRCh37
NC_000009.10:g.110698747T>C NCBI36
NG_008788.1:g.42683A>G , LRG_251:g.42683A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2588-2A>G MANE Select NP_003631.2:n.2588-2A>G
ENST00000374647.10:c.2588-2A>G MANE Select ENSP00000363779.5:n.2588-2A>G
NM_001318360.1:c.2246-2A>G NP_001305289.1:n.2246-2A>G
NM_001318360.2:c.2246-2A>G NP_001305289.1:n.2246-2A>G
NM_001330749.1:c.1541-2A>G NP_001317678.1:n.1541-2A>G
NM_001330749.2:c.1541-2A>G NP_001317678.1:n.1541-2A>G
NM_003640.3:c.2588-2A>G , LRG_251t1:c.2588-2A>G NP_003631.2:n.2588-2A>G
NM_003640.4:c.2588-2A>G NP_003631.2:n.2588-2A>G
ENST00000374647.9:c.2588-2A>G ENSP00000363779.5:n.2588-2A>G
ENST00000495759.6:c.*1198-2A>G ENSP00000433514.2:n.*1198-2A>G
ENST00000537196.1:c.1541-2A>G ENSP00000439367.1:n.1541-2A>G
ENST00000674535.1:c.2588-2A>G ENSP00000502142.1:n.2588-2A>G
ENST00000674704.1:n.5673-2A>G
ENST00000674836.1:n.3199A>G
ENST00000674890.1:c.2588-2A>G ENSP00000501870.1:n.2588-2A>G
ENST00000674938.1:c.2246-2A>G ENSP00000502427.1:n.2246-2A>G
ENST00000674948.1:c.2246-2A>G ENSP00000501602.1:n.2246-2A>G
ENST00000675052.1:c.2588-2A>G ENSP00000502664.1:n.2588-2A>G
ENST00000675078.1:c.2588-2A>G ENSP00000501549.1:n.2588-2A>G
ENST00000675215.1:c.*1812-2A>G ENSP00000502558.1:n.*1812-2A>G
ENST00000675233.1:n.4415-2A>G
ENST00000675321.1:c.2588-2A>G ENSP00000502751.1:n.2588-2A>G
ENST00000675325.1:n.4545-2A>G
ENST00000675335.1:c.2619-2A>G ENSP00000502182.1:n.2619-2A>G
ENST00000675400.1:n.4323-2A>G
ENST00000675406.1:c.2588-2A>G ENSP00000501893.1:n.2588-2A>G
ENST00000675458.1:c.2681-2A>G ENSP00000501754.1:n.2681-2A>G
ENST00000675507.1:n.4384-2A>G
ENST00000675535.1:c.*215-2A>G ENSP00000501667.1:n.*215-2A>G
ENST00000675566.1:n.4446-2A>G
ENST00000675602.1:n.5636-2A>G
ENST00000675647.1:n.2893-2A>G
ENST00000675711.1:c.2588-2A>G ENSP00000502485.1:n.2588-2A>G
ENST00000675727.1:c.2588-2A>G ENSP00000501722.1:n.2588-2A>G
ENST00000675748.1:n.4222-2A>G
ENST00000675765.1:c.2650-2A>G ENSP00000502640.1:n.2650-2A>G
ENST00000675825.1:c.2588-2A>G ENSP00000502632.1:n.2588-2A>G
ENST00000675877.1:n.2893-2A>G
ENST00000675893.1:c.*3657-2A>G ENSP00000502001.1:n.*3657-2A>G
ENST00000675943.1:n.6203-2A>G
ENST00000675979.1:c.*1831-2A>G ENSP00000502208.1:n.*1831-2A>G
ENST00000676044.1:c.*248-2A>G ENSP00000502378.1:n.*248-2A>G
ENST00000676086.1:n.4373-2A>G
ENST00000676121.1:n.4416-2A>G
ENST00000676237.1:c.2489-2A>G ENSP00000501828.1:n.2489-2A>G
ENST00000676416.1:c.2246-2A>G ENSP00000501660.1:n.2246-2A>G
ENST00000676424.1:n.4384-2A>G
ENST00000676429.1:n.7057-2A>G
XM_005252285.2:c.2246-2A>G XP_005252342.1:n.2246-2A>G
XM_011519136.1:c.2588-2A>G XP_011517438.1:n.2588-2A>G
XM_011519136.2:c.2588-2A>G XP_011517438.1:n.2588-2A>G
XM_011519137.1:c.2246-2A>G XP_011517439.1:n.2246-2A>G
XR_929859.1:n.2966-2A>G
XR_929859.3:n.2977-2A>G