Canonical Allele Identifier: CA374411974

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879546-G-C
• MyVariant Identifiers: chr9:g.111641826G>C (hg19) ; chr9:g.108879546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879546G>C , CM000671.2:g.108879546G>C	GRCh38
NC_000009.11:g.111641826G>C , CM000671.1:g.111641826G>C	GRCh37
NC_000009.10:g.110681647G>C	NCBI36
NG_008788.1:g.59783C>G , LRG_251:g.59783C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3472C>G MANE Select	ENSP00000363779.5:p.Pro1158Ala
ENST00000495759.6:c.*2082C>G	ENSP00000433514.2:n.*2082C>G
ENST00000674535.1:c.3472C>G	ENSP00000502142.1:p.Pro1158Ala
ENST00000674704.1:n.6557C>G
ENST00000674740.1:n.355C>G
ENST00000674836.1:n.4085C>G
ENST00000674890.1:c.*707C>G	ENSP00000501870.1:n.*707C>G
ENST00000674938.1:c.3130C>G	ENSP00000502427.1:p.Pro1044Ala
ENST00000674948.1:c.3130C>G	ENSP00000501602.1:p.Pro1044Ala
ENST00000675052.1:c.3472C>G	ENSP00000502664.1:p.Pro1158Ala
ENST00000675062.1:n.518C>G
ENST00000675078.1:c.3472C>G	ENSP00000501549.1:p.Pro1158Ala
ENST00000675215.1:c.*2696C>G	ENSP00000502558.1:n.*2696C>G
ENST00000675233.1:n.5299C>G
ENST00000675321.1:c.3460+506C>G	ENSP00000502751.1:n.3460+506C>G
ENST00000675325.1:n.5429C>G
ENST00000675335.1:c.3503C>G	ENSP00000502182.1:n.3503C>G
ENST00000675400.1:n.5324C>G
ENST00000675406.1:c.3472C>G	ENSP00000501893.1:p.Pro1158Ala
ENST00000675458.1:c.3565C>G	ENSP00000501754.1:n.3565C>G
ENST00000675507.1:n.5268C>G
ENST00000675535.1:c.*1099C>G	ENSP00000501667.1:n.*1099C>G
ENST00000675566.1:n.5330C>G
ENST00000675580.1:n.625C>G
ENST00000675602.1:n.6520C>G
ENST00000675647.1:n.4636C>G
ENST00000675711.1:c.3589C>G	ENSP00000502485.1:n.3589C>G
ENST00000675727.1:c.3472C>G	ENSP00000501722.1:p.Pro1158Ala
ENST00000675748.1:n.5106C>G
ENST00000675765.1:c.*855C>G	ENSP00000502640.1:n.*855C>G
ENST00000675825.1:c.3514C>G	ENSP00000502632.1:p.Pro1172Ala
ENST00000675877.1:n.5316C>G
ENST00000675893.1:c.*4541C>G	ENSP00000502001.1:n.*4541C>G
ENST00000675943.1:n.7087C>G
ENST00000675979.1:c.*2715C>G	ENSP00000502208.1:n.*2715C>G
ENST00000676044.1:c.*1132C>G	ENSP00000502378.1:n.*1132C>G
ENST00000676086.1:n.5257C>G
ENST00000676121.1:n.5300C>G
ENST00000676162.1:n.201C>G
ENST00000676237.1:c.3415C>G	ENSP00000501828.1:p.Pro1139Ala
ENST00000676416.1:c.3172C>G	ENSP00000501660.1:p.Pro1058Ala
ENST00000676424.1:n.5310C>G
ENST00000676429.1:n.7941C>G
ENST00000374647.9:c.3472C>G	ENSP00000363779.5:p.Pro1158Ala
ENST00000467959.1:n.352C>G
ENST00000495759.5:c.612C>G
ENST00000537196.1:c.2425C>G	ENSP00000439367.1:p.Pro809Ala
NM_003640.3:c.3472C>G , LRG_251t1:c.3472C>G	NP_003631.2:p.Pro1158Ala
XM_005252285.2:c.3130C>G	XP_005252342.1:p.Pro1044Ala
XM_011519136.1:c.3514C>G	XP_011517438.1:p.Pro1172Ala
XM_011519137.1:c.3172C>G	XP_011517439.1:p.Pro1058Ala
NM_001318360.1:c.3130C>G	NP_001305289.1:p.Pro1044Ala
NM_001330749.1:c.2425C>G	NP_001317678.1:p.Pro809Ala
NM_003640.4:c.3472C>G	NP_003631.2:p.Pro1158Ala
XM_011519136.2:c.3514C>G	XP_011517438.1:p.Pro1172Ala
XR_929859.3:n.3861C>G
NM_003640.5:c.3472C>G MANE Select	NP_003631.2:p.Pro1158Ala
NM_001318360.2:c.3130C>G	NP_001305289.1:p.Pro1044Ala
NM_001330749.2:c.2425C>G	NP_001317678.1:p.Pro809Ala