Canonical Allele Identifier: CA7296174

Gene: SEL1L

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81504259T>C , CM000676.2:g.81504259T>C	GRCh38
NC_000014.8:g.81970603T>C , CM000676.1:g.81970603T>C	GRCh37
NC_000014.7:g.81040356T>C	NCBI36
NG_030335.1:g.34603A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005065.6:c.556A>G MANE Select	NP_005056.3:p.Met186Val
ENST00000336735.9:c.556A>G MANE Select	ENSP00000337053.4:p.Met186Val
NM_001244984.1:c.556A>G	NP_001231913.1:p.Met186Val
NM_001244984.2:c.556A>G	NP_001231913.1:p.Met186Val
NM_005065.5:c.556A>G	NP_005056.3:p.Met186Val
ENST00000336735.8:c.556A>G	ENSP00000337053.4:p.Met186Val
ENST00000554744.1:n.130A>G
ENST00000555824.5:c.556A>G	ENSP00000450709.1:p.Met186Val
XM_005267988.1:c.493A>G	XP_005268045.1:p.Met165Val
XM_005267988.3:c.493A>G	XP_005268045.1:p.Met165Val
XM_005267989.2:c.556A>G	XP_005268046.1:p.Met186Val
XM_005267989.4:c.556A>G	XP_005268046.1:p.Met186Val