Canonical Allele Identifier: CA375085018
Community Standard Title: NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128625141C>T , CM000671.2:g.128625141C>T GRCh38
NC_000009.11:g.131387420C>T , CM000671.1:g.131387420C>T GRCh37
NC_000009.10:g.130427241C>T NCBI36
NG_027748.1:g.77584C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130438.3:c.6031C>T MANE Select NP_001123910.1:p.Arg2011Ter
ENST00000372739.7:c.6031C>T MANE Select ENSP00000361824.4:p.Arg2011Ter
NM_001130438.2:c.6031C>T NP_001123910.1:p.Arg2011Ter
NM_001195532.1:c.5956C>T NP_001182461.1:p.Arg1986Ter
NM_001195532.2:c.5956C>T NP_001182461.1:p.Arg1986Ter
NM_001363759.1:c.6031C>T NP_001350688.1:p.Arg2011Ter
NM_001363759.2:c.6031C>T NP_001350688.1:p.Arg2011Ter
NM_001363765.1:c.5971C>T NP_001350694.1:p.Arg1991Ter
NM_001363765.2:c.5971C>T NP_001350694.1:p.Arg1991Ter
NM_001375310.1:c.6031C>T NP_001362239.1:p.Arg2011Ter
NM_001375311.2:c.6031C>T NP_001362240.1:p.Arg2011Ter
NM_001375312.2:c.6067C>T NP_001362241.2:p.Arg2023Ter
NM_001375313.1:c.6031C>T NP_001362242.1:p.Arg2011Ter
NM_001375314.2:c.5971C>T NP_001362243.1:p.Arg1991Ter
NM_001375318.1:c.6067C>T NP_001362247.1:p.Arg2023Ter
NM_003127.3:c.6016C>T NP_003118.2:p.Arg2006Ter
NM_003127.4:c.6016C>T NP_003118.2:p.Arg2006Ter
ENST00000358161.9:c.5956C>T ENSP00000350882.6:p.Arg1986Ter
ENST00000372731.8:c.6016C>T ENSP00000361816.4:p.Arg2006Ter
ENST00000372739.5:c.6031C>T ENSP00000361824.3:p.Arg2011Ter
ENST00000627441.3:c.6067C>T ENSP00000486547.2:p.Arg2023Ter
ENST00000629047.1:n.276C>T
ENST00000630804.2:c.5971C>T ENSP00000486308.1:p.Arg1991Ter
ENST00000630866.1:c.6031C>T ENSP00000487444.1:p.Arg2011Ter
ENST00000630866.2:c.6031C>T ENSP00000487444.1:p.Arg2011Ter
ENST00000637903.1:c.536C>T ENSP00000490332.1:n.536C>T
ENST00000704202.1:c.6031C>T ENSP00000515764.1:p.Arg2011Ter
ENST00000704203.1:c.6067C>T ENSP00000515765.1:p.Arg2023Ter
ENST00000704204.1:c.5494C>T ENSP00000515766.1:p.Arg1832Ter
ENST00000704206.1:c.3654C>T
ENST00000704207.1:c.1973C>T
ENST00000706487.1:c.6031C>T ENSP00000516412.1:p.Arg2011Ter
XM_006717245.1:c.6067C>T XP_006717308.1:p.Arg2023Ter
XM_006717246.1:c.6052C>T XP_006717309.1:p.Arg2018Ter
XM_006717247.1:c.6007C>T XP_006717310.1:p.Arg2003Ter
XM_006717247.2:c.6007C>T XP_006717310.1:p.Arg2003Ter
XM_006717248.1:c.6067C>T XP_006717311.1:p.Arg2023Ter
XM_006717248.2:c.6067C>T XP_006717311.1:p.Arg2023Ter
XM_006717249.1:c.6052C>T XP_006717312.1:p.Arg2018Ter
XM_006717250.1:c.6067C>T XP_006717313.1:p.Arg2023Ter
XM_006717251.1:c.5971C>T XP_006717314.1:p.Arg1991Ter
XM_006717251.2:c.5971C>T XP_006717314.1:p.Arg1991Ter
XM_006717252.1:c.6007C>T XP_006717315.1:p.Arg2003Ter
XM_006717252.3:c.6007C>T XP_006717315.1:p.Arg2003Ter
XM_006717253.1:c.5992C>T XP_006717316.1:p.Arg1998Ter
XM_006717254.1:c.6031C>T XP_006717317.1:p.Arg2011Ter
XM_017015059.1:c.6031C>T XP_016870548.1:p.Arg2011Ter
XM_017015060.1:c.6007C>T XP_016870549.1:p.Arg2003Ter