Canonical Allele Identifier: CA375077315

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 2502048
• ClinVar RCV Id: RCV003228467
• dbSNP Id: rs1857397304
• MyVariant Identifiers: chr9:g.131380359A>G (hg19) ; chr9:g.128618080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128618080A>G , CM000671.2:g.128618080A>G	GRCh38
NC_000009.11:g.131380359A>G , CM000671.1:g.131380359A>G	GRCh37
NC_000009.10:g.130420180A>G	NCBI36
NG_027748.1:g.70523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5608A>G	ENSP00000486547.2:p.Lys1870Glu
ENST00000630866.2:c.5572A>G	ENSP00000487444.1:p.Lys1858Glu
ENST00000704202.1:c.5572A>G	ENSP00000515764.1:p.Lys1858Glu
ENST00000704203.1:c.5608A>G	ENSP00000515765.1:p.Lys1870Glu
ENST00000704204.1:c.5035A>G	ENSP00000515766.1:p.Lys1679Glu
ENST00000704206.1:c.3195A>G
ENST00000704207.1:c.1182A>G
ENST00000706487.1:c.5572A>G	ENSP00000516412.1:p.Lys1858Glu
ENST00000372739.7:c.5572A>G MANE Select	ENSP00000361824.4:p.Lys1858Glu
ENST00000637434.1:n.800A>G
ENST00000358161.9:c.5497A>G	ENSP00000350882.6:p.Lys1833Glu
ENST00000372731.8:c.5557A>G	ENSP00000361816.4:p.Lys1853Glu
ENST00000372739.5:c.5572A>G	ENSP00000361824.3:p.Lys1858Glu
ENST00000630804.2:c.5512A>G	ENSP00000486308.1:p.Lys1838Glu
ENST00000630866.1:c.5572A>G	ENSP00000487444.1:p.Lys1858Glu
NM_001130438.2:c.5572A>G	NP_001123910.1:p.Lys1858Glu
NM_001195532.1:c.5497A>G	NP_001182461.1:p.Lys1833Glu
NM_003127.3:c.5557A>G	NP_003118.2:p.Lys1853Glu
XM_006717245.1:c.5608A>G	XP_006717308.1:p.Lys1870Glu
XM_006717246.1:c.5593A>G	XP_006717309.1:p.Lys1865Glu
XM_006717247.1:c.5548A>G	XP_006717310.1:p.Lys1850Glu
XM_006717248.1:c.5608A>G	XP_006717311.1:p.Lys1870Glu
XM_006717249.1:c.5593A>G	XP_006717312.1:p.Lys1865Glu
XM_006717250.1:c.5608A>G	XP_006717313.1:p.Lys1870Glu
XM_006717251.1:c.5512A>G	XP_006717314.1:p.Lys1838Glu
XM_006717252.1:c.5548A>G	XP_006717315.1:p.Lys1850Glu
XM_006717253.1:c.5533A>G	XP_006717316.1:p.Lys1845Glu
XM_006717254.1:c.5572A>G	XP_006717317.1:p.Lys1858Glu
NM_001363759.1:c.5572A>G	NP_001350688.1:p.Lys1858Glu
NM_001363765.1:c.5512A>G	NP_001350694.1:p.Lys1838Glu
XM_006717247.2:c.5548A>G	XP_006717310.1:p.Lys1850Glu
XM_006717248.2:c.5608A>G	XP_006717311.1:p.Lys1870Glu
XM_006717251.2:c.5512A>G	XP_006717314.1:p.Lys1838Glu
XM_006717252.3:c.5548A>G	XP_006717315.1:p.Lys1850Glu
XM_017015059.1:c.5572A>G	XP_016870548.1:p.Lys1858Glu
XM_017015060.1:c.5548A>G	XP_016870549.1:p.Lys1850Glu
NM_001130438.3:c.5572A>G MANE Select	NP_001123910.1:p.Lys1858Glu
NM_001195532.2:c.5497A>G	NP_001182461.1:p.Lys1833Glu
NM_001363759.2:c.5572A>G	NP_001350688.1:p.Lys1858Glu
NM_001363765.2:c.5512A>G	NP_001350694.1:p.Lys1838Glu
NM_001375310.1:c.5572A>G	NP_001362239.1:p.Lys1858Glu
NM_001375311.2:c.5572A>G	NP_001362240.1:p.Lys1858Glu
NM_001375312.2:c.5608A>G	NP_001362241.2:p.Lys1870Glu
NM_001375313.1:c.5572A>G	NP_001362242.1:p.Lys1858Glu
NM_001375314.2:c.5512A>G	NP_001362243.1:p.Lys1838Glu
NM_001375318.1:c.5608A>G	NP_001362247.1:p.Lys1870Glu
NM_003127.4:c.5557A>G	NP_003118.2:p.Lys1853Glu