Canonical Allele Identifier: CA081098

Gene: SEC14L1

Linked Data

• ClinVar Variation Id: 222961
• ClinVar RCV Id: RCV000208543
• dbSNP Id: rs776854628
• MyVariant Identifiers: chr17:g.75186921C>G (hg19) ; chr17:g.77190839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77190839C>G , CM000679.2:g.77190839C>G	GRCh38
NC_000017.10:g.75186921C>G , CM000679.1:g.75186921C>G	GRCh37
NC_000017.9:g.72698516C>G	NCBI36
NG_050640.1:g.107197C>G
NG_050640.2:g.107197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436233.9:c.100C>G MANE Select	ENSP00000390392.3:p.Pro34Ala
ENST00000392476.6:c.100C>G	ENSP00000376268.2:p.Pro34Ala
ENST00000430767.8:c.100C>G	ENSP00000408169.3:p.Pro34Ala
ENST00000431431.6:c.-3C>G	ENSP00000389838.1:n.-3C>G
ENST00000436233.8:c.100C>G	ENSP00000390392.3:p.Pro34Ala
ENST00000443798.8:c.100C>G	ENSP00000406030.3:p.Pro34Ala
ENST00000585618.5:c.100C>G	ENSP00000466581.1:p.Pro34Ala
ENST00000586390.5:n.333C>G
ENST00000586429.5:c.100C>G	ENSP00000466220.1:p.Pro34Ala
ENST00000587820.1:c.100C>G	ENSP00000467868.1:p.Pro34Ala
ENST00000588616.6:c.-3C>G	ENSP00000466137.2:n.-3C>G
ENST00000589827.5:c.100C>G	ENSP00000464973.1:p.Pro34Ala
ENST00000590483.1:c.37C>G	ENSP00000468727.1:p.Pro13Ala
ENST00000591437.5:c.-3C>G	ENSP00000467934.1:n.-3C>G
ENST00000591786.5:c.100C>G	ENSP00000468184.1:p.Pro34Ala
NM_001039573.2:c.100C>G	NP_001034662.2:p.Pro34Ala
NM_001143998.1:c.100C>G	NP_001137470.1:p.Pro34Ala
NM_001143999.1:c.100C>G	NP_001137471.1:p.Pro34Ala
NM_001144001.1:c.-3C>G	NP_001137473.1:n.-3C>G
NM_001204408.1:c.100C>G	NP_001191337.1:p.Pro34Ala
NM_001204410.1:c.100C>G	NP_001191339.1:p.Pro34Ala
NM_003003.3:c.100C>G	NP_002994.3:p.Pro34Ala
NM_001143998.2:c.100C>G MANE Select	NP_001137470.2:p.Pro34Ala
NM_001039573.3:c.100C>G	NP_001034662.3:p.Pro34Ala
NM_001143999.2:c.100C>G	NP_001137471.2:p.Pro34Ala
NM_001144001.2:c.-3C>G	NP_001137473.2:n.-3C>G
NM_001204408.2:c.100C>G	NP_001191337.2:p.Pro34Ala
NM_001204410.2:c.100C>G	NP_001191339.2:p.Pro34Ala
NM_003003.4:c.100C>G	NP_002994.4:p.Pro34Ala