Canonical Allele Identifier: CA375097843

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 1396033
• ClinVar RCV Id: RCV001891535 ; RCV002236185
• dbSNP Id: rs1341044436
• gnomAD v2: 9-131394484-C-A
• gnomAD v4: 9-128632205-C-A
• MyVariant Identifiers: chr9:g.131394484C>A (hg19) ; chr9:g.128632205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632205C>A , CM000671.2:g.128632205C>A	GRCh38
NC_000009.11:g.131394484C>A , CM000671.1:g.131394484C>A	GRCh37
NC_000009.10:g.130434305C>A	NCBI36
NG_027748.1:g.84648C>A
NG_034056.1:g.29646G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6877C>A	ENSP00000486547.2:p.Leu2293Ile
ENST00000630866.2:c.6904C>A	ENSP00000487444.1:p.Leu2302Ile
ENST00000704202.1:c.6928C>A	ENSP00000515764.1:p.Leu2310Ile
ENST00000704203.1:c.6877C>A	ENSP00000515765.1:p.Leu2293Ile
ENST00000704204.1:c.6367C>A	ENSP00000515766.1:p.Leu2123Ile
ENST00000704206.1:c.4446C>A
ENST00000704207.1:c.2783C>A
ENST00000706487.1:c.6841C>A	ENSP00000516412.1:p.Leu2281Ile
ENST00000372739.7:c.6841C>A MANE Select	ENSP00000361824.4:p.Leu2281Ile
ENST00000636010.1:n.565C>A
ENST00000358161.9:c.6766C>A	ENSP00000350882.6:p.Leu2256Ile
ENST00000372731.8:c.6826C>A	ENSP00000361816.4:p.Leu2276Ile
ENST00000372739.5:c.6841C>A	ENSP00000361824.3:p.Leu2281Ile
ENST00000625980.2:n.795C>A
ENST00000630763.1:n.598C>A
ENST00000630804.2:c.6781C>A	ENSP00000486308.1:p.Leu2261Ile
ENST00000630866.1:c.6904C>A	ENSP00000487444.1:p.Leu2302Ile
NM_001130438.2:c.6841C>A	NP_001123910.1:p.Leu2281Ile
NM_001195532.1:c.6766C>A	NP_001182461.1:p.Leu2256Ile
NM_003127.3:c.6826C>A	NP_003118.2:p.Leu2276Ile
XM_006717245.1:c.6940C>A	XP_006717308.1:p.Leu2314Ile
XM_006717246.1:c.6925C>A	XP_006717309.1:p.Leu2309Ile
XM_006717247.1:c.6880C>A	XP_006717310.1:p.Leu2294Ile
XM_006717248.1:c.6877C>A	XP_006717311.1:p.Leu2293Ile
XM_006717249.1:c.6862C>A	XP_006717312.1:p.Leu2288Ile
XM_006717250.1:c.6859C>A	XP_006717313.1:p.Leu2287Ile
XM_006717251.1:c.6844C>A	XP_006717314.1:p.Leu2282Ile
XM_006717252.1:c.6817C>A	XP_006717315.1:p.Leu2273Ile
XM_006717253.1:c.6802C>A	XP_006717316.1:p.Leu2268Ile
XM_006717254.1:c.6904C>A	XP_006717317.1:p.Leu2302Ile
NM_001363759.1:c.6904C>A	NP_001350688.1:p.Leu2302Ile
NM_001363765.1:c.6781C>A	NP_001350694.1:p.Leu2261Ile
XM_006717247.2:c.6880C>A	XP_006717310.1:p.Leu2294Ile
XM_006717248.2:c.6877C>A	XP_006717311.1:p.Leu2293Ile
XM_006717251.2:c.6844C>A	XP_006717314.1:p.Leu2282Ile
XM_006717252.3:c.6817C>A	XP_006717315.1:p.Leu2273Ile
XM_017015059.1:c.6823C>A	XP_016870548.1:p.Leu2275Ile
XM_017015060.1:c.6799C>A	XP_016870549.1:p.Leu2267Ile
NM_001130438.3:c.6841C>A MANE Select	NP_001123910.1:p.Leu2281Ile
NM_001195532.2:c.6766C>A	NP_001182461.1:p.Leu2256Ile
NM_001363759.2:c.6904C>A	NP_001350688.1:p.Leu2302Ile
NM_001363765.2:c.6781C>A	NP_001350694.1:p.Leu2261Ile
NM_001375310.1:c.6928C>A	NP_001362239.1:p.Leu2310Ile
NM_001375311.2:c.6841C>A	NP_001362240.1:p.Leu2281Ile
NM_001375312.2:c.6877C>A	NP_001362241.2:p.Leu2293Ile
NM_001375313.1:c.6823C>A	NP_001362242.1:p.Leu2275Ile
NM_001375314.2:c.6781C>A	NP_001362243.1:p.Leu2261Ile
NM_001375318.1:c.6940C>A	NP_001362247.1:p.Leu2314Ile
NM_003127.4:c.6826C>A	NP_003118.2:p.Leu2276Ile