Canonical Allele Identifier: CA357982696

Gene: ELOVL6

Linked Data

• COSMIC: COSM1485604
• MyVariant Identifiers: chr4:g.111026713C>G (hg19) ; chr4:g.110105557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105557C>G , CM000666.2:g.110105557C>G	GRCh38
NC_000004.11:g.111026713C>G , CM000666.1:g.111026713C>G	GRCh37
NC_000004.10:g.111246162C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.161G>C MANE Select	ENSP00000304736.3:p.Arg54Pro
ENST00000302274.7:c.161G>C	ENSP00000304736.3:p.Arg54Pro
ENST00000394607.7:c.161G>C	ENSP00000378105.3:p.Arg54Pro
ENST00000503885.1:c.161G>C	ENSP00000426086.1:p.Arg54Pro
ENST00000506461.1:n.376G>C
ENST00000506625.5:c.161G>C	ENSP00000425488.1:p.Arg54Pro
ENST00000514184.5:c.161G>C	ENSP00000424023.1:p.Arg54Pro
NM_001130721.1:c.161G>C	NP_001124193.1:p.Arg54Pro
NM_024090.2:c.161G>C	NP_076995.1:p.Arg54Pro
XM_011532233.1:c.161G>C	XP_011530535.1:p.Arg54Pro
XM_011532234.1:c.161G>C	XP_011530536.1:p.Arg54Pro
XM_011532235.1:c.-121G>C	XP_011530537.1:n.-121G>C
XM_011532233.3:c.161G>C	XP_011530535.1:p.Arg54Pro
XM_011532234.3:c.161G>C	XP_011530536.1:p.Arg54Pro
NM_001130721.2:c.161G>C	NP_001124193.1:p.Arg54Pro
NM_024090.3:c.161G>C MANE Select	NP_076995.1:p.Arg54Pro