Canonical Allele Identifier: CA375098262
Gene: SPTAN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632233A>C , CM000671.2:g.128632233A>C GRCh38
NC_000009.11:g.131394512A>C , CM000671.1:g.131394512A>C GRCh37
NC_000009.10:g.130434333A>C NCBI36
NG_027748.1:g.84676A>C
NG_034056.1:g.29618T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6905A>C ENSP00000486547.2:p.His2302Pro
ENST00000630866.2:c.6932A>C ENSP00000487444.1:p.His2311Pro
ENST00000704202.1:c.6956A>C ENSP00000515764.1:p.His2319Pro
ENST00000704203.1:c.6905A>C ENSP00000515765.1:p.His2302Pro
ENST00000704204.1:c.6395A>C ENSP00000515766.1:p.His2132Pro
ENST00000704206.1:c.4474A>C
ENST00000704207.1:c.2811A>C
ENST00000706487.1:c.6869A>C ENSP00000516412.1:p.His2290Pro
ENST00000372739.7:c.6869A>C MANE Select ENSP00000361824.4:p.His2290Pro
ENST00000636010.1:n.593A>C
ENST00000358161.9:c.6794A>C ENSP00000350882.6:p.His2265Pro
ENST00000372731.8:c.6854A>C ENSP00000361816.4:p.His2285Pro
ENST00000372739.5:c.6869A>C ENSP00000361824.3:p.His2290Pro
ENST00000625980.2:n.823A>C
ENST00000630763.1:n.626A>C
ENST00000630804.2:c.6809A>C ENSP00000486308.1:p.His2270Pro
ENST00000630866.1:c.6932A>C ENSP00000487444.1:p.His2311Pro
NM_001130438.2:c.6869A>C NP_001123910.1:p.His2290Pro
NM_001195532.1:c.6794A>C NP_001182461.1:p.His2265Pro
NM_003127.3:c.6854A>C NP_003118.2:p.His2285Pro
XM_006717245.1:c.6968A>C XP_006717308.1:p.His2323Pro
XM_006717246.1:c.6953A>C XP_006717309.1:p.His2318Pro
XM_006717247.1:c.6908A>C XP_006717310.1:p.His2303Pro
XM_006717248.1:c.6905A>C XP_006717311.1:p.His2302Pro
XM_006717249.1:c.6890A>C XP_006717312.1:p.His2297Pro
XM_006717250.1:c.6887A>C XP_006717313.1:p.His2296Pro
XM_006717251.1:c.6872A>C XP_006717314.1:p.His2291Pro
XM_006717252.1:c.6845A>C XP_006717315.1:p.His2282Pro
XM_006717253.1:c.6830A>C XP_006717316.1:p.His2277Pro
XM_006717254.1:c.6932A>C XP_006717317.1:p.His2311Pro
NM_001363759.1:c.6932A>C NP_001350688.1:p.His2311Pro
NM_001363765.1:c.6809A>C NP_001350694.1:p.His2270Pro
XM_006717247.2:c.6908A>C XP_006717310.1:p.His2303Pro
XM_006717248.2:c.6905A>C XP_006717311.1:p.His2302Pro
XM_006717251.2:c.6872A>C XP_006717314.1:p.His2291Pro
XM_006717252.3:c.6845A>C XP_006717315.1:p.His2282Pro
XM_017015059.1:c.6851A>C XP_016870548.1:p.His2284Pro
XM_017015060.1:c.6827A>C XP_016870549.1:p.His2276Pro
NM_001130438.3:c.6869A>C MANE Select NP_001123910.1:p.His2290Pro
NM_001195532.2:c.6794A>C NP_001182461.1:p.His2265Pro
NM_001363759.2:c.6932A>C NP_001350688.1:p.His2311Pro
NM_001363765.2:c.6809A>C NP_001350694.1:p.His2270Pro
NM_001375310.1:c.6956A>C NP_001362239.1:p.His2319Pro
NM_001375311.2:c.6869A>C NP_001362240.1:p.His2290Pro
NM_001375312.2:c.6905A>C NP_001362241.2:p.His2302Pro
NM_001375313.1:c.6851A>C NP_001362242.1:p.His2284Pro
NM_001375314.2:c.6809A>C NP_001362243.1:p.His2270Pro
NM_001375318.1:c.6968A>C NP_001362247.1:p.His2323Pro
NM_003127.4:c.6854A>C NP_003118.2:p.His2285Pro