Canonical Allele Identifier: CA5266081
Community Standard Title: NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128633216C>T , CM000671.2:g.128633216C>T GRCh38
NC_000009.11:g.131395495C>T , CM000671.1:g.131395495C>T GRCh37
NC_000009.10:g.130435316C>T NCBI36
NG_027748.1:g.85659C>T
NG_034056.1:g.28635G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001130438.3:c.7316C>T MANE Select NP_001123910.1:p.Thr2439Ile
ENST00000372739.7:c.7316C>T MANE Select ENSP00000361824.4:p.Thr2439Ile
NM_001130438.2:c.7316C>T NP_001123910.1:p.Thr2439Ile
NM_001195532.1:c.7241C>T NP_001182461.1:p.Thr2414Ile
NM_001195532.2:c.7241C>T NP_001182461.1:p.Thr2414Ile
NM_001363759.1:c.7379C>T NP_001350688.1:p.Thr2460Ile
NM_001363759.2:c.7379C>T NP_001350688.1:p.Thr2460Ile
NM_001363765.1:c.7256C>T NP_001350694.1:p.Thr2419Ile
NM_001363765.2:c.7256C>T NP_001350694.1:p.Thr2419Ile
NM_001375310.1:c.7403C>T NP_001362239.1:p.Thr2468Ile
NM_001375311.2:c.7316C>T NP_001362240.1:p.Thr2439Ile
NM_001375312.2:c.7352C>T NP_001362241.2:p.Thr2451Ile
NM_001375313.1:c.7298C>T NP_001362242.1:p.Thr2433Ile
NM_001375314.2:c.7256C>T NP_001362243.1:p.Thr2419Ile
NM_001375318.1:c.7415C>T NP_001362247.1:p.Thr2472Ile
NM_003127.3:c.7301C>T NP_003118.2:p.Thr2434Ile
NM_003127.4:c.7301C>T NP_003118.2:p.Thr2434Ile
ENST00000358161.9:c.7241C>T ENSP00000350882.6:p.Thr2414Ile
ENST00000372731.8:c.7301C>T ENSP00000361816.4:p.Thr2434Ile
ENST00000372739.5:c.7316C>T ENSP00000361824.3:p.Thr2439Ile
ENST00000625980.2:n.1270C>T
ENST00000627441.3:c.7352C>T ENSP00000486547.2:p.Thr2451Ile
ENST00000630147.1:n.339C>T
ENST00000630763.1:n.1073C>T
ENST00000630804.2:c.7256C>T ENSP00000486308.1:p.Thr2419Ile
ENST00000630866.1:c.7379C>T ENSP00000487444.1:p.Thr2460Ile
ENST00000630866.2:c.7379C>T ENSP00000487444.1:p.Thr2460Ile
ENST00000636010.1:n.1040C>T
ENST00000704202.1:c.7403C>T ENSP00000515764.1:p.Thr2468Ile
ENST00000704203.1:c.7352C>T ENSP00000515765.1:p.Thr2451Ile
ENST00000704204.1:c.6842C>T ENSP00000515766.1:p.Thr2281Ile
ENST00000704206.1:c.4921C>T
ENST00000704207.1:c.3258C>T
ENST00000706487.1:c.7316C>T ENSP00000516412.1:p.Thr2439Ile
XM_006717245.1:c.7415C>T XP_006717308.1:p.Thr2472Ile
XM_006717246.1:c.7400C>T XP_006717309.1:p.Thr2467Ile
XM_006717247.1:c.7355C>T XP_006717310.1:p.Thr2452Ile
XM_006717247.2:c.7355C>T XP_006717310.1:p.Thr2452Ile
XM_006717248.1:c.7352C>T XP_006717311.1:p.Thr2451Ile
XM_006717248.2:c.7352C>T XP_006717311.1:p.Thr2451Ile
XM_006717249.1:c.7337C>T XP_006717312.1:p.Thr2446Ile
XM_006717250.1:c.7334C>T XP_006717313.1:p.Thr2445Ile
XM_006717251.1:c.7319C>T XP_006717314.1:p.Thr2440Ile
XM_006717251.2:c.7319C>T XP_006717314.1:p.Thr2440Ile
XM_006717252.1:c.7292C>T XP_006717315.1:p.Thr2431Ile
XM_006717252.3:c.7292C>T XP_006717315.1:p.Thr2431Ile
XM_006717253.1:c.7277C>T XP_006717316.1:p.Thr2426Ile
XM_006717254.1:c.7379C>T XP_006717317.1:p.Thr2460Ile
XM_017015059.1:c.7298C>T XP_016870548.1:p.Thr2433Ile
XM_017015060.1:c.7274C>T XP_016870549.1:p.Thr2425Ile