Canonical Allele Identifier: CA374420808

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108897035G>T , CM000671.2:g.108897035G>T	GRCh38
NC_000009.11:g.111659315G>T , CM000671.1:g.111659315G>T	GRCh37
NC_000009.10:g.110699136G>T	NCBI36
NG_008788.1:g.42294C>A , LRG_251:g.42294C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.2505C>A MANE Select	NP_003631.2:p.Tyr835Ter
ENST00000374647.10:c.2505C>A MANE Select	ENSP00000363779.5:p.Tyr835Ter
NM_001318360.1:c.2163C>A	NP_001305289.1:p.Tyr721Ter
NM_001318360.2:c.2163C>A	NP_001305289.1:p.Tyr721Ter
NM_001330749.1:c.1458C>A	NP_001317678.1:p.Tyr486Ter
NM_001330749.2:c.1458C>A	NP_001317678.1:p.Tyr486Ter
NM_003640.3:c.2505C>A , LRG_251t1:c.2505C>A	NP_003631.2:p.Tyr835Ter
NM_003640.4:c.2505C>A	NP_003631.2:p.Tyr835Ter
ENST00000374647.9:c.2505C>A	ENSP00000363779.5:p.Tyr835Ter
ENST00000495759.6:c.*1115C>A	ENSP00000433514.2:n.*1115C>A
ENST00000537196.1:c.1458C>A	ENSP00000439367.1:p.Tyr486Ter
ENST00000674535.1:c.2505C>A	ENSP00000502142.1:p.Tyr835Ter
ENST00000674704.1:n.5528C>A
ENST00000674836.1:n.2810C>A
ENST00000674890.1:c.2505C>A	ENSP00000501870.1:p.Tyr835Ter
ENST00000674938.1:c.2163C>A	ENSP00000502427.1:p.Tyr721Ter
ENST00000674948.1:c.2163C>A	ENSP00000501602.1:p.Tyr721Ter
ENST00000675052.1:c.2505C>A	ENSP00000502664.1:p.Tyr835Ter
ENST00000675078.1:c.2505C>A	ENSP00000501549.1:p.Tyr835Ter
ENST00000675215.1:c.*1729C>A	ENSP00000502558.1:n.*1729C>A
ENST00000675233.1:n.4332C>A
ENST00000675321.1:c.2505C>A	ENSP00000502751.1:p.Tyr835Ter
ENST00000675325.1:n.4400C>A
ENST00000675335.1:c.2536C>A	ENSP00000502182.1:n.2536C>A
ENST00000675400.1:n.4178C>A
ENST00000675406.1:c.2505C>A	ENSP00000501893.1:p.Tyr835Ter
ENST00000675458.1:c.2598C>A	ENSP00000501754.1:n.2598C>A
ENST00000675507.1:n.4301C>A
ENST00000675535.1:c.*70C>A	ENSP00000501667.1:n.*70C>A
ENST00000675566.1:n.4301C>A
ENST00000675602.1:n.5553C>A
ENST00000675647.1:n.2810C>A
ENST00000675711.1:c.2505C>A	ENSP00000502485.1:p.Tyr835Ter
ENST00000675727.1:c.2505C>A	ENSP00000501722.1:p.Tyr835Ter
ENST00000675748.1:n.4139C>A
ENST00000675765.1:c.2505C>A	ENSP00000502640.1:p.Tyr835Ter
ENST00000675825.1:c.2505C>A	ENSP00000502632.1:p.Tyr835Ter
ENST00000675877.1:n.2810C>A
ENST00000675893.1:c.*3574C>A	ENSP00000502001.1:n.*3574C>A
ENST00000675943.1:n.6120C>A
ENST00000675979.1:c.*1748C>A	ENSP00000502208.1:n.*1748C>A
ENST00000676044.1:c.*165C>A	ENSP00000502378.1:n.*165C>A
ENST00000676086.1:n.4290C>A
ENST00000676121.1:n.4333C>A
ENST00000676237.1:c.2406C>A	ENSP00000501828.1:p.Tyr802Ter
ENST00000676416.1:c.2163C>A	ENSP00000501660.1:p.Tyr721Ter
ENST00000676424.1:n.4301C>A
ENST00000676429.1:n.6974C>A
XM_005252285.2:c.2163C>A	XP_005252342.1:p.Tyr721Ter
XM_011519136.1:c.2505C>A	XP_011517438.1:p.Tyr835Ter
XM_011519136.2:c.2505C>A	XP_011517438.1:p.Tyr835Ter
XM_011519137.1:c.2163C>A	XP_011517439.1:p.Tyr721Ter
XR_929859.1:n.2821C>A
XR_929859.3:n.2832C>A