Canonical Allele Identifier: CA375098291

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394514A>T (hg19) ; chr9:g.128632235A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632235A>T , CM000671.2:g.128632235A>T	GRCh38
NC_000009.11:g.131394514A>T , CM000671.1:g.131394514A>T	GRCh37
NC_000009.10:g.130434335A>T	NCBI36
NG_027748.1:g.84678A>T
NG_034056.1:g.29616T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6907A>T	ENSP00000486547.2:p.Ser2303Cys
ENST00000630866.2:c.6934A>T	ENSP00000487444.1:p.Ser2312Cys
ENST00000704202.1:c.6958A>T	ENSP00000515764.1:p.Ser2320Cys
ENST00000704203.1:c.6907A>T	ENSP00000515765.1:p.Ser2303Cys
ENST00000704204.1:c.6397A>T	ENSP00000515766.1:p.Ser2133Cys
ENST00000704206.1:c.4476A>T
ENST00000704207.1:c.2813A>T
ENST00000706487.1:c.6871A>T	ENSP00000516412.1:p.Ser2291Cys
ENST00000372739.7:c.6871A>T MANE Select	ENSP00000361824.4:p.Ser2291Cys
ENST00000636010.1:n.595A>T
ENST00000358161.9:c.6796A>T	ENSP00000350882.6:p.Ser2266Cys
ENST00000372731.8:c.6856A>T	ENSP00000361816.4:p.Ser2286Cys
ENST00000372739.5:c.6871A>T	ENSP00000361824.3:p.Ser2291Cys
ENST00000625980.2:n.825A>T
ENST00000630763.1:n.628A>T
ENST00000630804.2:c.6811A>T	ENSP00000486308.1:p.Ser2271Cys
ENST00000630866.1:c.6934A>T	ENSP00000487444.1:p.Ser2312Cys
NM_001130438.2:c.6871A>T	NP_001123910.1:p.Ser2291Cys
NM_001195532.1:c.6796A>T	NP_001182461.1:p.Ser2266Cys
NM_003127.3:c.6856A>T	NP_003118.2:p.Ser2286Cys
XM_006717245.1:c.6970A>T	XP_006717308.1:p.Ser2324Cys
XM_006717246.1:c.6955A>T	XP_006717309.1:p.Ser2319Cys
XM_006717247.1:c.6910A>T	XP_006717310.1:p.Ser2304Cys
XM_006717248.1:c.6907A>T	XP_006717311.1:p.Ser2303Cys
XM_006717249.1:c.6892A>T	XP_006717312.1:p.Ser2298Cys
XM_006717250.1:c.6889A>T	XP_006717313.1:p.Ser2297Cys
XM_006717251.1:c.6874A>T	XP_006717314.1:p.Ser2292Cys
XM_006717252.1:c.6847A>T	XP_006717315.1:p.Ser2283Cys
XM_006717253.1:c.6832A>T	XP_006717316.1:p.Ser2278Cys
XM_006717254.1:c.6934A>T	XP_006717317.1:p.Ser2312Cys
NM_001363759.1:c.6934A>T	NP_001350688.1:p.Ser2312Cys
NM_001363765.1:c.6811A>T	NP_001350694.1:p.Ser2271Cys
XM_006717247.2:c.6910A>T	XP_006717310.1:p.Ser2304Cys
XM_006717248.2:c.6907A>T	XP_006717311.1:p.Ser2303Cys
XM_006717251.2:c.6874A>T	XP_006717314.1:p.Ser2292Cys
XM_006717252.3:c.6847A>T	XP_006717315.1:p.Ser2283Cys
XM_017015059.1:c.6853A>T	XP_016870548.1:p.Ser2285Cys
XM_017015060.1:c.6829A>T	XP_016870549.1:p.Ser2277Cys
NM_001130438.3:c.6871A>T MANE Select	NP_001123910.1:p.Ser2291Cys
NM_001195532.2:c.6796A>T	NP_001182461.1:p.Ser2266Cys
NM_001363759.2:c.6934A>T	NP_001350688.1:p.Ser2312Cys
NM_001363765.2:c.6811A>T	NP_001350694.1:p.Ser2271Cys
NM_001375310.1:c.6958A>T	NP_001362239.1:p.Ser2320Cys
NM_001375311.2:c.6871A>T	NP_001362240.1:p.Ser2291Cys
NM_001375312.2:c.6907A>T	NP_001362241.2:p.Ser2303Cys
NM_001375313.1:c.6853A>T	NP_001362242.1:p.Ser2285Cys
NM_001375314.2:c.6811A>T	NP_001362243.1:p.Ser2271Cys
NM_001375318.1:c.6970A>T	NP_001362247.1:p.Ser2324Cys
NM_003127.4:c.6856A>T	NP_003118.2:p.Ser2286Cys