Canonical Allele Identifier: CA10626532

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 365179
• ClinVar RCV Id: RCV000862600 ; RCV002317866 ; RCV002061317
• dbSNP Id: rs886063509
• gnomAD v2: 9-131394519-C-T
• gnomAD v3: 9-128632240-C-T
• gnomAD v4: 9-128632240-C-T
• MyVariant Identifiers: chr9:g.131394519C>T (hg19) ; chr9:g.128632240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632240C>T , CM000671.2:g.128632240C>T	GRCh38
NC_000009.11:g.131394519C>T , CM000671.1:g.131394519C>T	GRCh37
NC_000009.10:g.130434340C>T	NCBI36
NG_027748.1:g.84683C>T
NG_034056.1:g.29611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6912C>T	ENSP00000486547.2:p.Thr2304=
ENST00000630866.2:c.6939C>T	ENSP00000487444.1:p.Thr2313=
ENST00000704202.1:c.6963C>T	ENSP00000515764.1:p.Thr2321=
ENST00000704203.1:c.6912C>T	ENSP00000515765.1:p.Thr2304=
ENST00000704204.1:c.6402C>T	ENSP00000515766.1:p.Thr2134=
ENST00000704206.1:c.4481C>T
ENST00000704207.1:c.2818C>T
ENST00000706487.1:c.6876C>T	ENSP00000516412.1:p.Thr2292=
ENST00000372739.7:c.6876C>T MANE Select	ENSP00000361824.4:p.Thr2292=
ENST00000636010.1:n.600C>T
ENST00000358161.9:c.6801C>T	ENSP00000350882.6:p.Thr2267=
ENST00000372731.8:c.6861C>T	ENSP00000361816.4:p.Thr2287=
ENST00000372739.5:c.6876C>T	ENSP00000361824.3:p.Thr2292=
ENST00000625980.2:n.830C>T
ENST00000630763.1:n.633C>T
ENST00000630804.2:c.6816C>T	ENSP00000486308.1:p.Thr2272=
ENST00000630866.1:c.6939C>T	ENSP00000487444.1:p.Thr2313=
NM_001130438.2:c.6876C>T	NP_001123910.1:p.Thr2292=
NM_001195532.1:c.6801C>T	NP_001182461.1:p.Thr2267=
NM_003127.3:c.6861C>T	NP_003118.2:p.Thr2287=
XM_006717245.1:c.6975C>T	XP_006717308.1:p.Thr2325=
XM_006717246.1:c.6960C>T	XP_006717309.1:p.Thr2320=
XM_006717247.1:c.6915C>T	XP_006717310.1:p.Thr2305=
XM_006717248.1:c.6912C>T	XP_006717311.1:p.Thr2304=
XM_006717249.1:c.6897C>T	XP_006717312.1:p.Thr2299=
XM_006717250.1:c.6894C>T	XP_006717313.1:p.Thr2298=
XM_006717251.1:c.6879C>T	XP_006717314.1:p.Thr2293=
XM_006717252.1:c.6852C>T	XP_006717315.1:p.Thr2284=
XM_006717253.1:c.6837C>T	XP_006717316.1:p.Thr2279=
XM_006717254.1:c.6939C>T	XP_006717317.1:p.Thr2313=
NM_001363759.1:c.6939C>T	NP_001350688.1:p.Thr2313=
NM_001363765.1:c.6816C>T	NP_001350694.1:p.Thr2272=
XM_006717247.2:c.6915C>T	XP_006717310.1:p.Thr2305=
XM_006717248.2:c.6912C>T	XP_006717311.1:p.Thr2304=
XM_006717251.2:c.6879C>T	XP_006717314.1:p.Thr2293=
XM_006717252.3:c.6852C>T	XP_006717315.1:p.Thr2284=
XM_017015059.1:c.6858C>T	XP_016870548.1:p.Thr2286=
XM_017015060.1:c.6834C>T	XP_016870549.1:p.Thr2278=
NM_001130438.3:c.6876C>T MANE Select	NP_001123910.1:p.Thr2292=
NM_001195532.2:c.6801C>T	NP_001182461.1:p.Thr2267=
NM_001363759.2:c.6939C>T	NP_001350688.1:p.Thr2313=
NM_001363765.2:c.6816C>T	NP_001350694.1:p.Thr2272=
NM_001375310.1:c.6963C>T	NP_001362239.1:p.Thr2321=
NM_001375311.2:c.6876C>T	NP_001362240.1:p.Thr2292=
NM_001375312.2:c.6912C>T	NP_001362241.2:p.Thr2304=
NM_001375313.1:c.6858C>T	NP_001362242.1:p.Thr2286=
NM_001375314.2:c.6816C>T	NP_001362243.1:p.Thr2272=
NM_001375318.1:c.6975C>T	NP_001362247.1:p.Thr2325=
NM_003127.4:c.6861C>T	NP_003118.2:p.Thr2287=