Canonical Allele Identifier: CA374414863

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651627C>G (hg19) ; chr9:g.108889347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889347C>G , CM000671.2:g.108889347C>G	GRCh38
NC_000009.11:g.111651627C>G , CM000671.1:g.111651627C>G	GRCh37
NC_000009.10:g.110691448C>G	NCBI36
NG_008788.1:g.49982G>C , LRG_251:g.49982G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3207G>C MANE Select	ENSP00000363779.5:p.Leu1069Phe
ENST00000495759.6:c.*1817G>C	ENSP00000433514.2:n.*1817G>C
ENST00000674535.1:c.3207G>C	ENSP00000502142.1:p.Leu1069Phe
ENST00000674704.1:n.6292G>C
ENST00000674836.1:n.3820G>C
ENST00000674890.1:c.*442G>C	ENSP00000501870.1:n.*442G>C
ENST00000674938.1:c.2865G>C	ENSP00000502427.1:p.Leu955Phe
ENST00000674948.1:c.2865G>C	ENSP00000501602.1:p.Leu955Phe
ENST00000675052.1:c.3207G>C	ENSP00000502664.1:p.Leu1069Phe
ENST00000675078.1:c.3207G>C	ENSP00000501549.1:p.Leu1069Phe
ENST00000675215.1:c.*2431G>C	ENSP00000502558.1:n.*2431G>C
ENST00000675233.1:n.5034G>C
ENST00000675321.1:c.3207G>C	ENSP00000502751.1:p.Leu1069Phe
ENST00000675325.1:n.5164G>C
ENST00000675335.1:c.3238G>C	ENSP00000502182.1:n.3238G>C
ENST00000675400.1:n.4942G>C
ENST00000675406.1:c.3207G>C	ENSP00000501893.1:p.Leu1069Phe
ENST00000675458.1:c.3300G>C	ENSP00000501754.1:n.3300G>C
ENST00000675507.1:n.5003G>C
ENST00000675535.1:c.*834G>C	ENSP00000501667.1:n.*834G>C
ENST00000675566.1:n.5065G>C
ENST00000675602.1:n.6255G>C
ENST00000675647.1:n.4371G>C
ENST00000675711.1:c.3207G>C	ENSP00000502485.1:p.Leu1069Phe
ENST00000675727.1:c.3207G>C	ENSP00000501722.1:p.Leu1069Phe
ENST00000675748.1:n.4841G>C
ENST00000675765.1:c.*590G>C	ENSP00000502640.1:n.*590G>C
ENST00000675825.1:c.3207G>C	ENSP00000502632.1:p.Leu1069Phe
ENST00000675877.1:n.3512G>C
ENST00000675893.1:c.*4276G>C	ENSP00000502001.1:n.*4276G>C
ENST00000675943.1:n.6822G>C
ENST00000675979.1:c.*2450G>C	ENSP00000502208.1:n.*2450G>C
ENST00000676044.1:c.*867G>C	ENSP00000502378.1:n.*867G>C
ENST00000676086.1:n.4992G>C
ENST00000676121.1:n.5035G>C
ENST00000676237.1:c.3108G>C	ENSP00000501828.1:p.Leu1036Phe
ENST00000676416.1:c.2865G>C	ENSP00000501660.1:p.Leu955Phe
ENST00000676424.1:n.5003G>C
ENST00000676429.1:n.7676G>C
ENST00000374647.9:c.3207G>C	ENSP00000363779.5:p.Leu1069Phe
ENST00000467959.1:n.87G>C
ENST00000495759.5:c.347G>C
ENST00000537196.1:c.2160G>C	ENSP00000439367.1:p.Leu720Phe
NM_003640.3:c.3207G>C , LRG_251t1:c.3207G>C	NP_003631.2:p.Leu1069Phe
XM_005252285.2:c.2865G>C	XP_005252342.1:p.Leu955Phe
XM_011519136.1:c.3207G>C	XP_011517438.1:p.Leu1069Phe
XM_011519137.1:c.2865G>C	XP_011517439.1:p.Leu955Phe
NM_001318360.1:c.2865G>C	NP_001305289.1:p.Leu955Phe
NM_001330749.1:c.2160G>C	NP_001317678.1:p.Leu720Phe
NM_003640.4:c.3207G>C	NP_003631.2:p.Leu1069Phe
XM_011519136.2:c.3207G>C	XP_011517438.1:p.Leu1069Phe
XR_929859.3:n.3596G>C
NM_003640.5:c.3207G>C MANE Select	NP_003631.2:p.Leu1069Phe
NM_001318360.2:c.2865G>C	NP_001305289.1:p.Leu955Phe
NM_001330749.2:c.2160G>C	NP_001317678.1:p.Leu720Phe