Canonical Allele Identifier: CA374411649

Gene: ELP1

Linked Data

• dbSNP Id: rs1441814020
• gnomAD v2: 9-111641750-G-T
• gnomAD v3: 9-108879470-G-T
• gnomAD v4: 9-108879470-G-T
• MyVariant Identifiers: chr9:g.111641750G>T (hg19) ; chr9:g.108879470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879470G>T , CM000671.2:g.108879470G>T	GRCh38
NC_000009.11:g.111641750G>T , CM000671.1:g.111641750G>T	GRCh37
NC_000009.10:g.110681571G>T	NCBI36
NG_008788.1:g.59859C>A , LRG_251:g.59859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3548C>A MANE Select	ENSP00000363779.5:p.Ser1183Tyr
ENST00000495759.6:c.*2158C>A	ENSP00000433514.2:n.*2158C>A
ENST00000674535.1:c.3548C>A	ENSP00000502142.1:p.Ser1183Tyr
ENST00000674704.1:n.6633C>A
ENST00000674740.1:n.431C>A
ENST00000674836.1:n.4161C>A
ENST00000674890.1:c.*783C>A	ENSP00000501870.1:n.*783C>A
ENST00000674938.1:c.3206C>A	ENSP00000502427.1:p.Ser1069Tyr
ENST00000674948.1:c.3206C>A	ENSP00000501602.1:p.Ser1069Tyr
ENST00000675052.1:c.3548C>A	ENSP00000502664.1:p.Ser1183Tyr
ENST00000675062.1:n.594C>A
ENST00000675078.1:c.3548C>A	ENSP00000501549.1:p.Ser1183Tyr
ENST00000675215.1:c.*2772C>A	ENSP00000502558.1:n.*2772C>A
ENST00000675233.1:n.5375C>A
ENST00000675321.1:c.3460+582C>A	ENSP00000502751.1:n.3460+582C>A
ENST00000675325.1:n.5505C>A
ENST00000675335.1:c.3579C>A	ENSP00000502182.1:n.3579C>A
ENST00000675400.1:n.5400C>A
ENST00000675406.1:c.3548C>A	ENSP00000501893.1:p.Ser1183Tyr
ENST00000675458.1:c.3641C>A	ENSP00000501754.1:n.3641C>A
ENST00000675507.1:n.5344C>A
ENST00000675535.1:c.*1175C>A	ENSP00000501667.1:n.*1175C>A
ENST00000675566.1:n.5406C>A
ENST00000675580.1:n.701C>A
ENST00000675602.1:n.6596C>A
ENST00000675647.1:n.4712C>A
ENST00000675711.1:c.3665C>A	ENSP00000502485.1:n.3665C>A
ENST00000675727.1:c.3548C>A	ENSP00000501722.1:p.Ser1183Tyr
ENST00000675748.1:n.5182C>A
ENST00000675765.1:c.*931C>A	ENSP00000502640.1:n.*931C>A
ENST00000675825.1:c.3590C>A	ENSP00000502632.1:p.Ser1197Tyr
ENST00000675877.1:n.5392C>A
ENST00000675893.1:c.*4617C>A	ENSP00000502001.1:n.*4617C>A
ENST00000675943.1:n.7163C>A
ENST00000675979.1:c.*2791C>A	ENSP00000502208.1:n.*2791C>A
ENST00000676044.1:c.*1208C>A	ENSP00000502378.1:n.*1208C>A
ENST00000676086.1:n.5333C>A
ENST00000676121.1:n.5376C>A
ENST00000676162.1:n.277C>A
ENST00000676237.1:c.3491C>A	ENSP00000501828.1:p.Ser1164Tyr
ENST00000676416.1:c.3248C>A	ENSP00000501660.1:p.Ser1083Tyr
ENST00000676424.1:n.5386C>A
ENST00000676429.1:n.8017C>A
ENST00000374647.9:c.3548C>A	ENSP00000363779.5:p.Ser1183Tyr
ENST00000467959.1:n.428C>A
ENST00000495759.5:c.688C>A
ENST00000537196.1:c.2501C>A	ENSP00000439367.1:p.Ser834Tyr
NM_003640.3:c.3548C>A , LRG_251t1:c.3548C>A	NP_003631.2:p.Ser1183Tyr
XM_005252285.2:c.3206C>A	XP_005252342.1:p.Ser1069Tyr
XM_011519136.1:c.3590C>A	XP_011517438.1:p.Ser1197Tyr
XM_011519137.1:c.3248C>A	XP_011517439.1:p.Ser1083Tyr
NM_001318360.1:c.3206C>A	NP_001305289.1:p.Ser1069Tyr
NM_001330749.1:c.2501C>A	NP_001317678.1:p.Ser834Tyr
NM_003640.4:c.3548C>A	NP_003631.2:p.Ser1183Tyr
XM_011519136.2:c.3590C>A	XP_011517438.1:p.Ser1197Tyr
XR_929859.3:n.3937C>A
NM_003640.5:c.3548C>A MANE Select	NP_003631.2:p.Ser1183Tyr
NM_001318360.2:c.3206C>A	NP_001305289.1:p.Ser1069Tyr
NM_001330749.2:c.2501C>A	NP_001317678.1:p.Ser834Tyr