Canonical Allele Identifier: CA1880371262
Community Standard Title: NM_001130438.3(SPTAN1):c.6899A= (p.Asp2300=)
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632263A= , CM000671.2:g.128632263A= GRCh38
NC_000009.11:g.131394542A= , CM000671.1:g.131394542A= GRCh37
NC_000009.10:g.130434363A= NCBI36
NG_027748.1:g.84706A=
NG_034056.1:g.29588T=

Transcript Alleles

HGVS Amino-acid Change
NM_001130438.3:c.6899A= MANE Select NP_001123910.1:p.Asp2300=
ENST00000372739.7:c.6899A= MANE Select ENSP00000361824.4:p.Asp2300=
NM_001130438.2:c.6899A= NP_001123910.1:p.Asp2300=
NM_001195532.1:c.6824A= NP_001182461.1:p.Asp2275=
NM_001195532.2:c.6824A= NP_001182461.1:p.Asp2275=
NM_001363759.1:c.6962A= NP_001350688.1:p.Asp2321=
NM_001363759.2:c.6962A= NP_001350688.1:p.Asp2321=
NM_001363765.1:c.6839A= NP_001350694.1:p.Asp2280=
NM_001363765.2:c.6839A= NP_001350694.1:p.Asp2280=
NM_001375310.1:c.6986A= NP_001362239.1:p.Asp2329=
NM_001375311.2:c.6899A= NP_001362240.1:p.Asp2300=
NM_001375312.2:c.6935A= NP_001362241.2:p.Asp2312=
NM_001375313.1:c.6881A= NP_001362242.1:p.Asp2294=
NM_001375314.2:c.6839A= NP_001362243.1:p.Asp2280=
NM_001375318.1:c.6998A= NP_001362247.1:p.Asp2333=
NM_003127.3:c.6884A= NP_003118.2:p.Asp2295=
NM_003127.4:c.6884A= NP_003118.2:p.Asp2295=
ENST00000358161.9:c.6824A= ENSP00000350882.6:p.Asp2275=
ENST00000372731.8:c.6884A= ENSP00000361816.4:p.Asp2295=
ENST00000372739.5:c.6899A= ENSP00000361824.3:p.Asp2300=
ENST00000625980.2:n.853A=
ENST00000627441.3:c.6935A= ENSP00000486547.2:p.Asp2312=
ENST00000630763.1:n.656A=
ENST00000630804.2:c.6839A= ENSP00000486308.1:p.Asp2280=
ENST00000630866.1:c.6962A= ENSP00000487444.1:p.Asp2321=
ENST00000630866.2:c.6962A= ENSP00000487444.1:p.Asp2321=
ENST00000636010.1:n.623A=
ENST00000704202.1:c.6986A= ENSP00000515764.1:p.Asp2329=
ENST00000704203.1:c.6935A= ENSP00000515765.1:p.Asp2312=
ENST00000704204.1:c.6425A= ENSP00000515766.1:p.Asp2142=
ENST00000704206.1:c.4504A=
ENST00000704207.1:c.2841A=
ENST00000706487.1:c.6899A= ENSP00000516412.1:p.Asp2300=
XM_006717245.1:c.6998A= XP_006717308.1:p.Asp2333=
XM_006717246.1:c.6983A= XP_006717309.1:p.Asp2328=
XM_006717247.1:c.6938A= XP_006717310.1:p.Asp2313=
XM_006717247.2:c.6938A= XP_006717310.1:p.Asp2313=
XM_006717248.1:c.6935A= XP_006717311.1:p.Asp2312=
XM_006717248.2:c.6935A= XP_006717311.1:p.Asp2312=
XM_006717249.1:c.6920A= XP_006717312.1:p.Asp2307=
XM_006717250.1:c.6917A= XP_006717313.1:p.Asp2306=
XM_006717251.1:c.6902A= XP_006717314.1:p.Asp2301=
XM_006717251.2:c.6902A= XP_006717314.1:p.Asp2301=
XM_006717252.1:c.6875A= XP_006717315.1:p.Asp2292=
XM_006717252.3:c.6875A= XP_006717315.1:p.Asp2292=
XM_006717253.1:c.6860A= XP_006717316.1:p.Asp2287=
XM_006717254.1:c.6962A= XP_006717317.1:p.Asp2321=
XM_017015059.1:c.6881A= XP_016870548.1:p.Asp2294=
XM_017015060.1:c.6857A= XP_016870549.1:p.Asp2286=