Canonical Allele Identifier: CA467303993
Gene: SPTAN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131380373G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128618094G>A , CM000671.2:g.128618094G>A GRCh38
NC_000009.11:g.131380373G>A , CM000671.1:g.131380373G>A GRCh37
NC_000009.10:g.130420194G>A NCBI36
NG_027748.1:g.70537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.5622G>A ENSP00000486547.2:p.Gln1874=
ENST00000630866.2:c.5586G>A ENSP00000487444.1:p.Gln1862=
ENST00000704202.1:c.5586G>A ENSP00000515764.1:p.Gln1862=
ENST00000704203.1:c.5622G>A ENSP00000515765.1:p.Gln1874=
ENST00000704204.1:c.5049G>A ENSP00000515766.1:p.Gln1683=
ENST00000704206.1:c.3209G>A
ENST00000704207.1:c.1196G>A
ENST00000706487.1:c.5586G>A ENSP00000516412.1:p.Gln1862=
ENST00000372739.7:c.5586G>A MANE Select ENSP00000361824.4:p.Gln1862=
ENST00000637434.1:n.814G>A
ENST00000358161.9:c.5511G>A ENSP00000350882.6:p.Gln1837=
ENST00000372731.8:c.5571G>A ENSP00000361816.4:p.Gln1857=
ENST00000372739.5:c.5586G>A ENSP00000361824.3:p.Gln1862=
ENST00000630804.2:c.5526G>A ENSP00000486308.1:p.Gln1842=
ENST00000630866.1:c.5586G>A ENSP00000487444.1:p.Gln1862=
NM_001130438.2:c.5586G>A NP_001123910.1:p.Gln1862=
NM_001195532.1:c.5511G>A NP_001182461.1:p.Gln1837=
NM_003127.3:c.5571G>A NP_003118.2:p.Gln1857=
XM_006717245.1:c.5622G>A XP_006717308.1:p.Gln1874=
XM_006717246.1:c.5607G>A XP_006717309.1:p.Gln1869=
XM_006717247.1:c.5562G>A XP_006717310.1:p.Gln1854=
XM_006717248.1:c.5622G>A XP_006717311.1:p.Gln1874=
XM_006717249.1:c.5607G>A XP_006717312.1:p.Gln1869=
XM_006717250.1:c.5622G>A XP_006717313.1:p.Gln1874=
XM_006717251.1:c.5526G>A XP_006717314.1:p.Gln1842=
XM_006717252.1:c.5562G>A XP_006717315.1:p.Gln1854=
XM_006717253.1:c.5547G>A XP_006717316.1:p.Gln1849=
XM_006717254.1:c.5586G>A XP_006717317.1:p.Gln1862=
NM_001363759.1:c.5586G>A NP_001350688.1:p.Gln1862=
NM_001363765.1:c.5526G>A NP_001350694.1:p.Gln1842=
XM_006717247.2:c.5562G>A XP_006717310.1:p.Gln1854=
XM_006717248.2:c.5622G>A XP_006717311.1:p.Gln1874=
XM_006717251.2:c.5526G>A XP_006717314.1:p.Gln1842=
XM_006717252.3:c.5562G>A XP_006717315.1:p.Gln1854=
XM_017015059.1:c.5586G>A XP_016870548.1:p.Gln1862=
XM_017015060.1:c.5562G>A XP_016870549.1:p.Gln1854=
NM_001130438.3:c.5586G>A MANE Select NP_001123910.1:p.Gln1862=
NM_001195532.2:c.5511G>A NP_001182461.1:p.Gln1837=
NM_001363759.2:c.5586G>A NP_001350688.1:p.Gln1862=
NM_001363765.2:c.5526G>A NP_001350694.1:p.Gln1842=
NM_001375310.1:c.5586G>A NP_001362239.1:p.Gln1862=
NM_001375311.2:c.5586G>A NP_001362240.1:p.Gln1862=
NM_001375312.2:c.5622G>A NP_001362241.2:p.Gln1874=
NM_001375313.1:c.5586G>A NP_001362242.1:p.Gln1862=
NM_001375314.2:c.5526G>A NP_001362243.1:p.Gln1842=
NM_001375318.1:c.5622G>A NP_001362247.1:p.Gln1874=
NM_003127.4:c.5571G>A NP_003118.2:p.Gln1857=