Canonical Allele Identifier: CA3037698290

Gene: SEC14L1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77214949C>A , CM000679.2:g.77214949C>A	GRCh38
NC_000017.10:g.75211031C>A , CM000679.1:g.75211031C>A	GRCh37
NC_000017.9:g.72722626C>A	NCBI36
NG_050640.1:g.131307C>A
NG_050640.2:g.131307C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001143998.2:c.*926C>A MANE Select	NP_001137470.2:n.*926C>A
ENST00000436233.9:c.*926C>A MANE Select	ENSP00000390392.3:n.*926C>A
NM_001039573.2:c.2144+930C>A	NP_001034662.2:n.2144+930C>A
NM_001039573.3:c.2144+930C>A	NP_001034662.3:n.2144+930C>A
NM_001143998.1:c.*926C>A	NP_001137470.1:n.*926C>A
NM_001143999.1:c.*926C>A	NP_001137471.1:n.*926C>A
NM_001143999.2:c.*926C>A	NP_001137471.2:n.*926C>A
NM_001144001.1:c.*926C>A	NP_001137473.1:n.*926C>A
NM_001144001.2:c.*926C>A	NP_001137473.2:n.*926C>A
NM_001204408.1:c.2144+930C>A	NP_001191337.1:n.2144+930C>A
NM_001204408.2:c.2144+930C>A	NP_001191337.2:n.2144+930C>A
NM_001204410.1:c.*926C>A	NP_001191339.1:n.*926C>A
NM_001204410.2:c.*926C>A	NP_001191339.2:n.*926C>A
NM_003003.3:c.*926C>A	NP_002994.3:n.*926C>A
NM_003003.4:c.*926C>A	NP_002994.4:n.*926C>A
ENST00000392476.6:c.2144+930C>A	ENSP00000376268.2:n.2144+930C>A
ENST00000430767.8:c.*926C>A	ENSP00000408169.3:n.*926C>A
ENST00000436233.8:c.*926C>A	ENSP00000390392.3:n.*926C>A
ENST00000443798.8:c.2144+930C>A	ENSP00000406030.3:n.2144+930C>A