Canonical Allele Identifier: CA1880371252
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632228G= , CM000671.2:g.128632228G= GRCh38
NC_000009.11:g.131394507G= , CM000671.1:g.131394507G= GRCh37
NC_000009.10:g.130434328G= NCBI36
NG_027748.1:g.84671G=
NG_034056.1:g.29623C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6900G= ENSP00000486547.2:p.Thr2300=
ENST00000630866.2:c.6927G= ENSP00000487444.1:p.Thr2309=
ENST00000704202.1:c.6951G= ENSP00000515764.1:p.Thr2317=
ENST00000704203.1:c.6900G= ENSP00000515765.1:p.Thr2300=
ENST00000704204.1:c.6390G= ENSP00000515766.1:p.Thr2130=
ENST00000704206.1:c.4469G=
ENST00000704207.1:c.2806G=
ENST00000706487.1:c.6864G= ENSP00000516412.1:p.Thr2288=
ENST00000372739.7:c.6864G= MANE Select ENSP00000361824.4:p.Thr2288=
ENST00000636010.1:n.588G=
ENST00000358161.9:c.6789G= ENSP00000350882.6:p.Thr2263=
ENST00000372731.8:c.6849G= ENSP00000361816.4:p.Thr2283=
ENST00000372739.5:c.6864G= ENSP00000361824.3:p.Thr2288=
ENST00000625980.2:n.818G=
ENST00000630763.1:n.621G=
ENST00000630804.2:c.6804G= ENSP00000486308.1:p.Thr2268=
ENST00000630866.1:c.6927G= ENSP00000487444.1:p.Thr2309=
NM_001130438.2:c.6864G= NP_001123910.1:p.Thr2288=
NM_001195532.1:c.6789G= NP_001182461.1:p.Thr2263=
NM_003127.3:c.6849G= NP_003118.2:p.Thr2283=
XM_006717245.1:c.6963G= XP_006717308.1:p.Thr2321=
XM_006717246.1:c.6948G= XP_006717309.1:p.Thr2316=
XM_006717247.1:c.6903G= XP_006717310.1:p.Thr2301=
XM_006717248.1:c.6900G= XP_006717311.1:p.Thr2300=
XM_006717249.1:c.6885G= XP_006717312.1:p.Thr2295=
XM_006717250.1:c.6882G= XP_006717313.1:p.Thr2294=
XM_006717251.1:c.6867G= XP_006717314.1:p.Thr2289=
XM_006717252.1:c.6840G= XP_006717315.1:p.Thr2280=
XM_006717253.1:c.6825G= XP_006717316.1:p.Thr2275=
XM_006717254.1:c.6927G= XP_006717317.1:p.Thr2309=
NM_001363759.1:c.6927G= NP_001350688.1:p.Thr2309=
NM_001363765.1:c.6804G= NP_001350694.1:p.Thr2268=
XM_006717247.2:c.6903G= XP_006717310.1:p.Thr2301=
XM_006717248.2:c.6900G= XP_006717311.1:p.Thr2300=
XM_006717251.2:c.6867G= XP_006717314.1:p.Thr2289=
XM_006717252.3:c.6840G= XP_006717315.1:p.Thr2280=
XM_017015059.1:c.6846G= XP_016870548.1:p.Thr2282=
XM_017015060.1:c.6822G= XP_016870549.1:p.Thr2274=
NM_001130438.3:c.6864G= MANE Select NP_001123910.1:p.Thr2288=
NM_001195532.2:c.6789G= NP_001182461.1:p.Thr2263=
NM_001363759.2:c.6927G= NP_001350688.1:p.Thr2309=
NM_001363765.2:c.6804G= NP_001350694.1:p.Thr2268=
NM_001375310.1:c.6951G= NP_001362239.1:p.Thr2317=
NM_001375311.2:c.6864G= NP_001362240.1:p.Thr2288=
NM_001375312.2:c.6900G= NP_001362241.2:p.Thr2300=
NM_001375313.1:c.6846G= NP_001362242.1:p.Thr2282=
NM_001375314.2:c.6804G= NP_001362243.1:p.Thr2268=
NM_001375318.1:c.6963G= NP_001362247.1:p.Thr2321=
NM_003127.4:c.6849G= NP_003118.2:p.Thr2283=