Canonical Allele Identifier: CA375098046

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 433115
• ClinVar RCV Id: RCV000656027
• dbSNP Id: rs1441152520
• gnomAD v2: 9-131394497-A-G
• gnomAD v4: 9-128632218-A-G
• MyVariant Identifiers: chr9:g.131394497A>G (hg19) ; chr9:g.128632218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632218A>G , CM000671.2:g.128632218A>G	GRCh38
NC_000009.11:g.131394497A>G , CM000671.1:g.131394497A>G	GRCh37
NC_000009.10:g.130434318A>G	NCBI36
NG_027748.1:g.84661A>G
NG_034056.1:g.29633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6890A>G	ENSP00000486547.2:p.Asn2297Ser
ENST00000630866.2:c.6917A>G	ENSP00000487444.1:p.Asn2306Ser
ENST00000704202.1:c.6941A>G	ENSP00000515764.1:p.Asn2314Ser
ENST00000704203.1:c.6890A>G	ENSP00000515765.1:p.Asn2297Ser
ENST00000704204.1:c.6380A>G	ENSP00000515766.1:p.Asn2127Ser
ENST00000704206.1:c.4459A>G
ENST00000704207.1:c.2796A>G
ENST00000706487.1:c.6854A>G	ENSP00000516412.1:p.Asn2285Ser
ENST00000372739.7:c.6854A>G MANE Select	ENSP00000361824.4:p.Asn2285Ser
ENST00000636010.1:n.578A>G
ENST00000358161.9:c.6779A>G	ENSP00000350882.6:p.Asn2260Ser
ENST00000372731.8:c.6839A>G	ENSP00000361816.4:p.Asn2280Ser
ENST00000372739.5:c.6854A>G	ENSP00000361824.3:p.Asn2285Ser
ENST00000625980.2:n.808A>G
ENST00000630763.1:n.611A>G
ENST00000630804.2:c.6794A>G	ENSP00000486308.1:p.Asn2265Ser
ENST00000630866.1:c.6917A>G	ENSP00000487444.1:p.Asn2306Ser
NM_001130438.2:c.6854A>G	NP_001123910.1:p.Asn2285Ser
NM_001195532.1:c.6779A>G	NP_001182461.1:p.Asn2260Ser
NM_003127.3:c.6839A>G	NP_003118.2:p.Asn2280Ser
XM_006717245.1:c.6953A>G	XP_006717308.1:p.Asn2318Ser
XM_006717246.1:c.6938A>G	XP_006717309.1:p.Asn2313Ser
XM_006717247.1:c.6893A>G	XP_006717310.1:p.Asn2298Ser
XM_006717248.1:c.6890A>G	XP_006717311.1:p.Asn2297Ser
XM_006717249.1:c.6875A>G	XP_006717312.1:p.Asn2292Ser
XM_006717250.1:c.6872A>G	XP_006717313.1:p.Asn2291Ser
XM_006717251.1:c.6857A>G	XP_006717314.1:p.Asn2286Ser
XM_006717252.1:c.6830A>G	XP_006717315.1:p.Asn2277Ser
XM_006717253.1:c.6815A>G	XP_006717316.1:p.Asn2272Ser
XM_006717254.1:c.6917A>G	XP_006717317.1:p.Asn2306Ser
NM_001363759.1:c.6917A>G	NP_001350688.1:p.Asn2306Ser
NM_001363765.1:c.6794A>G	NP_001350694.1:p.Asn2265Ser
XM_006717247.2:c.6893A>G	XP_006717310.1:p.Asn2298Ser
XM_006717248.2:c.6890A>G	XP_006717311.1:p.Asn2297Ser
XM_006717251.2:c.6857A>G	XP_006717314.1:p.Asn2286Ser
XM_006717252.3:c.6830A>G	XP_006717315.1:p.Asn2277Ser
XM_017015059.1:c.6836A>G	XP_016870548.1:p.Asn2279Ser
XM_017015060.1:c.6812A>G	XP_016870549.1:p.Asn2271Ser
NM_001130438.3:c.6854A>G MANE Select	NP_001123910.1:p.Asn2285Ser
NM_001195532.2:c.6779A>G	NP_001182461.1:p.Asn2260Ser
NM_001363759.2:c.6917A>G	NP_001350688.1:p.Asn2306Ser
NM_001363765.2:c.6794A>G	NP_001350694.1:p.Asn2265Ser
NM_001375310.1:c.6941A>G	NP_001362239.1:p.Asn2314Ser
NM_001375311.2:c.6854A>G	NP_001362240.1:p.Asn2285Ser
NM_001375312.2:c.6890A>G	NP_001362241.2:p.Asn2297Ser
NM_001375313.1:c.6836A>G	NP_001362242.1:p.Asn2279Ser
NM_001375314.2:c.6794A>G	NP_001362243.1:p.Asn2265Ser
NM_001375318.1:c.6953A>G	NP_001362247.1:p.Asn2318Ser
NM_003127.4:c.6839A>G	NP_003118.2:p.Asn2280Ser