Canonical Allele Identifier: CA246426

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632880C>T , CM000671.2:g.128632880C>T	GRCh38
NC_000009.11:g.131395159C>T , CM000671.1:g.131395159C>T	GRCh37
NC_000009.10:g.130434980C>T	NCBI36
NG_027748.1:g.85323C>T
NG_034056.1:g.28971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.7269C>T	ENSP00000486547.2:p.Ser2423=
ENST00000630866.2:c.7296C>T	ENSP00000487444.1:p.Ser2432=
ENST00000704202.1:c.7320C>T	ENSP00000515764.1:p.Ser2440=
ENST00000704203.1:c.7269C>T	ENSP00000515765.1:p.Ser2423=
ENST00000704204.1:c.6759C>T	ENSP00000515766.1:p.Ser2253=
ENST00000704206.1:c.4838C>T
ENST00000704207.1:c.3175C>T
ENST00000706487.1:c.7233C>T	ENSP00000516412.1:p.Ser2411=
ENST00000372739.7:c.7233C>T MANE Select	ENSP00000361824.4:p.Ser2411=
ENST00000636010.1:n.957C>T
ENST00000358161.9:c.7158C>T	ENSP00000350882.6:p.Ser2386=
ENST00000372731.8:c.7218C>T	ENSP00000361816.4:p.Ser2406=
ENST00000372739.5:c.7233C>T	ENSP00000361824.3:p.Ser2411=
ENST00000625980.2:n.1187C>T
ENST00000630147.1:n.256C>T
ENST00000630763.1:n.990C>T
ENST00000630804.2:c.7173C>T	ENSP00000486308.1:p.Ser2391=
ENST00000630866.1:c.7296C>T	ENSP00000487444.1:p.Ser2432=
ENST00000630981.1:c.106C>T
NM_001130438.2:c.7233C>T	NP_001123910.1:p.Ser2411=
NM_001195532.1:c.7158C>T	NP_001182461.1:p.Ser2386=
NM_003127.3:c.7218C>T	NP_003118.2:p.Ser2406=
XM_006717245.1:c.7332C>T	XP_006717308.1:p.Ser2444=
XM_006717246.1:c.7317C>T	XP_006717309.1:p.Ser2439=
XM_006717247.1:c.7272C>T	XP_006717310.1:p.Ser2424=
XM_006717248.1:c.7269C>T	XP_006717311.1:p.Ser2423=
XM_006717249.1:c.7254C>T	XP_006717312.1:p.Ser2418=
XM_006717250.1:c.7251C>T	XP_006717313.1:p.Ser2417=
XM_006717251.1:c.7236C>T	XP_006717314.1:p.Ser2412=
XM_006717252.1:c.7209C>T	XP_006717315.1:p.Ser2403=
XM_006717253.1:c.7194C>T	XP_006717316.1:p.Ser2398=
XM_006717254.1:c.7296C>T	XP_006717317.1:p.Ser2432=
NM_001363759.1:c.7296C>T	NP_001350688.1:p.Ser2432=
NM_001363765.1:c.7173C>T	NP_001350694.1:p.Ser2391=
XM_006717247.2:c.7272C>T	XP_006717310.1:p.Ser2424=
XM_006717248.2:c.7269C>T	XP_006717311.1:p.Ser2423=
XM_006717251.2:c.7236C>T	XP_006717314.1:p.Ser2412=
XM_006717252.3:c.7209C>T	XP_006717315.1:p.Ser2403=
XM_017015059.1:c.7215C>T	XP_016870548.1:p.Ser2405=
XM_017015060.1:c.7191C>T	XP_016870549.1:p.Ser2397=
NM_001130438.3:c.7233C>T MANE Select	NP_001123910.1:p.Ser2411=
NM_001195532.2:c.7158C>T	NP_001182461.1:p.Ser2386=
NM_001363759.2:c.7296C>T	NP_001350688.1:p.Ser2432=
NM_001363765.2:c.7173C>T	NP_001350694.1:p.Ser2391=
NM_001375310.1:c.7320C>T	NP_001362239.1:p.Ser2440=
NM_001375311.2:c.7233C>T	NP_001362240.1:p.Ser2411=
NM_001375312.2:c.7269C>T	NP_001362241.2:p.Ser2423=
NM_001375313.1:c.7215C>T	NP_001362242.1:p.Ser2405=
NM_001375314.2:c.7173C>T	NP_001362243.1:p.Ser2391=
NM_001375318.1:c.7332C>T	NP_001362247.1:p.Ser2444=
NM_003127.4:c.7218C>T	NP_003118.2:p.Ser2406=