Canonical Allele Identifier: CA5174465

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108891361A>G , CM000671.2:g.108891361A>G	GRCh38
NC_000009.11:g.111653641A>G , CM000671.1:g.111653641A>G	GRCh37
NC_000009.10:g.110693462A>G	NCBI36
NG_008788.1:g.47968T>C , LRG_251:g.47968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3002T>C MANE Select	ENSP00000363779.5:p.Met1001Thr
ENST00000495759.6:c.*1612T>C	ENSP00000433514.2:n.*1612T>C
ENST00000674535.1:c.3002T>C	ENSP00000502142.1:p.Met1001Thr
ENST00000674704.1:n.6087T>C
ENST00000674836.1:n.3615T>C
ENST00000674890.1:c.*237T>C	ENSP00000501870.1:n.*237T>C
ENST00000674938.1:c.2660T>C	ENSP00000502427.1:p.Met887Thr
ENST00000674948.1:c.2660T>C	ENSP00000501602.1:p.Met887Thr
ENST00000675052.1:c.3002T>C	ENSP00000502664.1:p.Met1001Thr
ENST00000675078.1:c.3002T>C	ENSP00000501549.1:p.Met1001Thr
ENST00000675215.1:c.*2226T>C	ENSP00000502558.1:n.*2226T>C
ENST00000675233.1:n.4829T>C
ENST00000675321.1:c.3002T>C	ENSP00000502751.1:p.Met1001Thr
ENST00000675325.1:n.4959T>C
ENST00000675335.1:c.3033T>C	ENSP00000502182.1:n.3033T>C
ENST00000675400.1:n.4737T>C
ENST00000675406.1:c.3002T>C	ENSP00000501893.1:p.Met1001Thr
ENST00000675458.1:c.3095T>C	ENSP00000501754.1:n.3095T>C
ENST00000675507.1:n.4798T>C
ENST00000675535.1:c.*629T>C	ENSP00000501667.1:n.*629T>C
ENST00000675566.1:n.4860T>C
ENST00000675602.1:n.6050T>C
ENST00000675647.1:n.4166T>C
ENST00000675711.1:c.3002T>C	ENSP00000502485.1:p.Met1001Thr
ENST00000675727.1:c.3002T>C	ENSP00000501722.1:p.Met1001Thr
ENST00000675748.1:n.4636T>C
ENST00000675765.1:c.*385T>C	ENSP00000502640.1:n.*385T>C
ENST00000675825.1:c.3002T>C	ENSP00000502632.1:p.Met1001Thr
ENST00000675877.1:n.3307T>C
ENST00000675893.1:c.*4071T>C	ENSP00000502001.1:n.*4071T>C
ENST00000675943.1:n.6617T>C
ENST00000675979.1:c.*2245T>C	ENSP00000502208.1:n.*2245T>C
ENST00000676044.1:c.*662T>C	ENSP00000502378.1:n.*662T>C
ENST00000676086.1:n.4787T>C
ENST00000676121.1:n.4830T>C
ENST00000676237.1:c.2903T>C	ENSP00000501828.1:p.Met968Thr
ENST00000676416.1:c.2660T>C	ENSP00000501660.1:p.Met887Thr
ENST00000676424.1:n.4798T>C
ENST00000676429.1:n.7471T>C
ENST00000374647.9:c.3002T>C	ENSP00000363779.5:p.Met1001Thr
ENST00000495759.5:c.142T>C
ENST00000537196.1:c.1955T>C	ENSP00000439367.1:p.Met652Thr
NM_003640.3:c.3002T>C , LRG_251t1:c.3002T>C	NP_003631.2:p.Met1001Thr
XM_005252285.2:c.2660T>C	XP_005252342.1:p.Met887Thr
XM_011519136.1:c.3002T>C	XP_011517438.1:p.Met1001Thr
XM_011519137.1:c.2660T>C	XP_011517439.1:p.Met887Thr
NM_001318360.1:c.2660T>C	NP_001305289.1:p.Met887Thr
NM_001330749.1:c.1955T>C	NP_001317678.1:p.Met652Thr
NM_003640.4:c.3002T>C	NP_003631.2:p.Met1001Thr
XM_011519136.2:c.3002T>C	XP_011517438.1:p.Met1001Thr
XR_929859.3:n.3391T>C
NM_003640.5:c.3002T>C MANE Select	NP_003631.2:p.Met1001Thr
NM_001318360.2:c.2660T>C	NP_001305289.1:p.Met887Thr
NM_001330749.2:c.1955T>C	NP_001317678.1:p.Met652Thr