Canonical Allele Identifier: CA467304829
Gene: SPTAN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131394495C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632216C>T , CM000671.2:g.128632216C>T GRCh38
NC_000009.11:g.131394495C>T , CM000671.1:g.131394495C>T GRCh37
NC_000009.10:g.130434316C>T NCBI36
NG_027748.1:g.84659C>T
NG_034056.1:g.29635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6888C>T ENSP00000486547.2:p.Asp2296=
ENST00000630866.2:c.6915C>T ENSP00000487444.1:p.Asp2305=
ENST00000704202.1:c.6939C>T ENSP00000515764.1:p.Asp2313=
ENST00000704203.1:c.6888C>T ENSP00000515765.1:p.Asp2296=
ENST00000704204.1:c.6378C>T ENSP00000515766.1:p.Asp2126=
ENST00000704206.1:c.4457C>T
ENST00000704207.1:c.2794C>T
ENST00000706487.1:c.6852C>T ENSP00000516412.1:p.Asp2284=
ENST00000372739.7:c.6852C>T MANE Select ENSP00000361824.4:p.Asp2284=
ENST00000636010.1:n.576C>T
ENST00000358161.9:c.6777C>T ENSP00000350882.6:p.Asp2259=
ENST00000372731.8:c.6837C>T ENSP00000361816.4:p.Asp2279=
ENST00000372739.5:c.6852C>T ENSP00000361824.3:p.Asp2284=
ENST00000625980.2:n.806C>T
ENST00000630763.1:n.609C>T
ENST00000630804.2:c.6792C>T ENSP00000486308.1:p.Asp2264=
ENST00000630866.1:c.6915C>T ENSP00000487444.1:p.Asp2305=
NM_001130438.2:c.6852C>T NP_001123910.1:p.Asp2284=
NM_001195532.1:c.6777C>T NP_001182461.1:p.Asp2259=
NM_003127.3:c.6837C>T NP_003118.2:p.Asp2279=
XM_006717245.1:c.6951C>T XP_006717308.1:p.Asp2317=
XM_006717246.1:c.6936C>T XP_006717309.1:p.Asp2312=
XM_006717247.1:c.6891C>T XP_006717310.1:p.Asp2297=
XM_006717248.1:c.6888C>T XP_006717311.1:p.Asp2296=
XM_006717249.1:c.6873C>T XP_006717312.1:p.Asp2291=
XM_006717250.1:c.6870C>T XP_006717313.1:p.Asp2290=
XM_006717251.1:c.6855C>T XP_006717314.1:p.Asp2285=
XM_006717252.1:c.6828C>T XP_006717315.1:p.Asp2276=
XM_006717253.1:c.6813C>T XP_006717316.1:p.Asp2271=
XM_006717254.1:c.6915C>T XP_006717317.1:p.Asp2305=
NM_001363759.1:c.6915C>T NP_001350688.1:p.Asp2305=
NM_001363765.1:c.6792C>T NP_001350694.1:p.Asp2264=
XM_006717247.2:c.6891C>T XP_006717310.1:p.Asp2297=
XM_006717248.2:c.6888C>T XP_006717311.1:p.Asp2296=
XM_006717251.2:c.6855C>T XP_006717314.1:p.Asp2285=
XM_006717252.3:c.6828C>T XP_006717315.1:p.Asp2276=
XM_017015059.1:c.6834C>T XP_016870548.1:p.Asp2278=
XM_017015060.1:c.6810C>T XP_016870549.1:p.Asp2270=
NM_001130438.3:c.6852C>T MANE Select NP_001123910.1:p.Asp2284=
NM_001195532.2:c.6777C>T NP_001182461.1:p.Asp2259=
NM_001363759.2:c.6915C>T NP_001350688.1:p.Asp2305=
NM_001363765.2:c.6792C>T NP_001350694.1:p.Asp2264=
NM_001375310.1:c.6939C>T NP_001362239.1:p.Asp2313=
NM_001375311.2:c.6852C>T NP_001362240.1:p.Asp2284=
NM_001375312.2:c.6888C>T NP_001362241.2:p.Asp2296=
NM_001375313.1:c.6834C>T NP_001362242.1:p.Asp2278=
NM_001375314.2:c.6792C>T NP_001362243.1:p.Asp2264=
NM_001375318.1:c.6951C>T NP_001362247.1:p.Asp2317=
NM_003127.4:c.6837C>T NP_003118.2:p.Asp2279=