Canonical Allele Identifier: CA375098106

Gene: SPTAN1

Linked Data

• gnomAD v4: 9-128632223-T-C
• MyVariant Identifiers: chr9:g.131394502T>C (hg19) ; chr9:g.128632223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632223T>C , CM000671.2:g.128632223T>C	GRCh38
NC_000009.11:g.131394502T>C , CM000671.1:g.131394502T>C	GRCh37
NC_000009.10:g.130434323T>C	NCBI36
NG_027748.1:g.84666T>C
NG_034056.1:g.29628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6895T>C	ENSP00000486547.2:p.Tyr2299His
ENST00000630866.2:c.6922T>C	ENSP00000487444.1:p.Tyr2308His
ENST00000704202.1:c.6946T>C	ENSP00000515764.1:p.Tyr2316His
ENST00000704203.1:c.6895T>C	ENSP00000515765.1:p.Tyr2299His
ENST00000704204.1:c.6385T>C	ENSP00000515766.1:p.Tyr2129His
ENST00000704206.1:c.4464T>C
ENST00000704207.1:c.2801T>C
ENST00000706487.1:c.6859T>C	ENSP00000516412.1:p.Tyr2287His
ENST00000372739.7:c.6859T>C MANE Select	ENSP00000361824.4:p.Tyr2287His
ENST00000636010.1:n.583T>C
ENST00000358161.9:c.6784T>C	ENSP00000350882.6:p.Tyr2262His
ENST00000372731.8:c.6844T>C	ENSP00000361816.4:p.Tyr2282His
ENST00000372739.5:c.6859T>C	ENSP00000361824.3:p.Tyr2287His
ENST00000625980.2:n.813T>C
ENST00000630763.1:n.616T>C
ENST00000630804.2:c.6799T>C	ENSP00000486308.1:p.Tyr2267His
ENST00000630866.1:c.6922T>C	ENSP00000487444.1:p.Tyr2308His
NM_001130438.2:c.6859T>C	NP_001123910.1:p.Tyr2287His
NM_001195532.1:c.6784T>C	NP_001182461.1:p.Tyr2262His
NM_003127.3:c.6844T>C	NP_003118.2:p.Tyr2282His
XM_006717245.1:c.6958T>C	XP_006717308.1:p.Tyr2320His
XM_006717246.1:c.6943T>C	XP_006717309.1:p.Tyr2315His
XM_006717247.1:c.6898T>C	XP_006717310.1:p.Tyr2300His
XM_006717248.1:c.6895T>C	XP_006717311.1:p.Tyr2299His
XM_006717249.1:c.6880T>C	XP_006717312.1:p.Tyr2294His
XM_006717250.1:c.6877T>C	XP_006717313.1:p.Tyr2293His
XM_006717251.1:c.6862T>C	XP_006717314.1:p.Tyr2288His
XM_006717252.1:c.6835T>C	XP_006717315.1:p.Tyr2279His
XM_006717253.1:c.6820T>C	XP_006717316.1:p.Tyr2274His
XM_006717254.1:c.6922T>C	XP_006717317.1:p.Tyr2308His
NM_001363759.1:c.6922T>C	NP_001350688.1:p.Tyr2308His
NM_001363765.1:c.6799T>C	NP_001350694.1:p.Tyr2267His
XM_006717247.2:c.6898T>C	XP_006717310.1:p.Tyr2300His
XM_006717248.2:c.6895T>C	XP_006717311.1:p.Tyr2299His
XM_006717251.2:c.6862T>C	XP_006717314.1:p.Tyr2288His
XM_006717252.3:c.6835T>C	XP_006717315.1:p.Tyr2279His
XM_017015059.1:c.6841T>C	XP_016870548.1:p.Tyr2281His
XM_017015060.1:c.6817T>C	XP_016870549.1:p.Tyr2273His
NM_001130438.3:c.6859T>C MANE Select	NP_001123910.1:p.Tyr2287His
NM_001195532.2:c.6784T>C	NP_001182461.1:p.Tyr2262His
NM_001363759.2:c.6922T>C	NP_001350688.1:p.Tyr2308His
NM_001363765.2:c.6799T>C	NP_001350694.1:p.Tyr2267His
NM_001375310.1:c.6946T>C	NP_001362239.1:p.Tyr2316His
NM_001375311.2:c.6859T>C	NP_001362240.1:p.Tyr2287His
NM_001375312.2:c.6895T>C	NP_001362241.2:p.Tyr2299His
NM_001375313.1:c.6841T>C	NP_001362242.1:p.Tyr2281His
NM_001375314.2:c.6799T>C	NP_001362243.1:p.Tyr2267His
NM_001375318.1:c.6958T>C	NP_001362247.1:p.Tyr2320His
NM_003127.4:c.6844T>C	NP_003118.2:p.Tyr2282His