Canonical Allele Identifier: CA375098174

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394505A>G (hg19) ; chr9:g.128632226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632226A>G , CM000671.2:g.128632226A>G	GRCh38
NC_000009.11:g.131394505A>G , CM000671.1:g.131394505A>G	GRCh37
NC_000009.10:g.130434326A>G	NCBI36
NG_027748.1:g.84669A>G
NG_034056.1:g.29625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6898A>G	ENSP00000486547.2:p.Thr2300Ala
ENST00000630866.2:c.6925A>G	ENSP00000487444.1:p.Thr2309Ala
ENST00000704202.1:c.6949A>G	ENSP00000515764.1:p.Thr2317Ala
ENST00000704203.1:c.6898A>G	ENSP00000515765.1:p.Thr2300Ala
ENST00000704204.1:c.6388A>G	ENSP00000515766.1:p.Thr2130Ala
ENST00000704206.1:c.4467A>G
ENST00000704207.1:c.2804A>G
ENST00000706487.1:c.6862A>G	ENSP00000516412.1:p.Thr2288Ala
ENST00000372739.7:c.6862A>G MANE Select	ENSP00000361824.4:p.Thr2288Ala
ENST00000636010.1:n.586A>G
ENST00000358161.9:c.6787A>G	ENSP00000350882.6:p.Thr2263Ala
ENST00000372731.8:c.6847A>G	ENSP00000361816.4:p.Thr2283Ala
ENST00000372739.5:c.6862A>G	ENSP00000361824.3:p.Thr2288Ala
ENST00000625980.2:n.816A>G
ENST00000630763.1:n.619A>G
ENST00000630804.2:c.6802A>G	ENSP00000486308.1:p.Thr2268Ala
ENST00000630866.1:c.6925A>G	ENSP00000487444.1:p.Thr2309Ala
NM_001130438.2:c.6862A>G	NP_001123910.1:p.Thr2288Ala
NM_001195532.1:c.6787A>G	NP_001182461.1:p.Thr2263Ala
NM_003127.3:c.6847A>G	NP_003118.2:p.Thr2283Ala
XM_006717245.1:c.6961A>G	XP_006717308.1:p.Thr2321Ala
XM_006717246.1:c.6946A>G	XP_006717309.1:p.Thr2316Ala
XM_006717247.1:c.6901A>G	XP_006717310.1:p.Thr2301Ala
XM_006717248.1:c.6898A>G	XP_006717311.1:p.Thr2300Ala
XM_006717249.1:c.6883A>G	XP_006717312.1:p.Thr2295Ala
XM_006717250.1:c.6880A>G	XP_006717313.1:p.Thr2294Ala
XM_006717251.1:c.6865A>G	XP_006717314.1:p.Thr2289Ala
XM_006717252.1:c.6838A>G	XP_006717315.1:p.Thr2280Ala
XM_006717253.1:c.6823A>G	XP_006717316.1:p.Thr2275Ala
XM_006717254.1:c.6925A>G	XP_006717317.1:p.Thr2309Ala
NM_001363759.1:c.6925A>G	NP_001350688.1:p.Thr2309Ala
NM_001363765.1:c.6802A>G	NP_001350694.1:p.Thr2268Ala
XM_006717247.2:c.6901A>G	XP_006717310.1:p.Thr2301Ala
XM_006717248.2:c.6898A>G	XP_006717311.1:p.Thr2300Ala
XM_006717251.2:c.6865A>G	XP_006717314.1:p.Thr2289Ala
XM_006717252.3:c.6838A>G	XP_006717315.1:p.Thr2280Ala
XM_017015059.1:c.6844A>G	XP_016870548.1:p.Thr2282Ala
XM_017015060.1:c.6820A>G	XP_016870549.1:p.Thr2274Ala
NM_001130438.3:c.6862A>G MANE Select	NP_001123910.1:p.Thr2288Ala
NM_001195532.2:c.6787A>G	NP_001182461.1:p.Thr2263Ala
NM_001363759.2:c.6925A>G	NP_001350688.1:p.Thr2309Ala
NM_001363765.2:c.6802A>G	NP_001350694.1:p.Thr2268Ala
NM_001375310.1:c.6949A>G	NP_001362239.1:p.Thr2317Ala
NM_001375311.2:c.6862A>G	NP_001362240.1:p.Thr2288Ala
NM_001375312.2:c.6898A>G	NP_001362241.2:p.Thr2300Ala
NM_001375313.1:c.6844A>G	NP_001362242.1:p.Thr2282Ala
NM_001375314.2:c.6802A>G	NP_001362243.1:p.Thr2268Ala
NM_001375318.1:c.6961A>G	NP_001362247.1:p.Thr2321Ala
NM_003127.4:c.6847A>G	NP_003118.2:p.Thr2283Ala