Canonical Allele Identifier: CA200400850

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 432499
• ClinVar RCV Id: RCV000498775 ; RCV003753127
• dbSNP Id: rs148294757
• gnomAD v3: 9-128615689-G-A
• gnomAD v4: 9-128615689-G-A
• MyVariant Identifiers: chr9:g.131377968G>A (hg19) ; chr9:g.128615689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128615689G>A , CM000671.2:g.128615689G>A	GRCh38
NC_000009.11:g.131377968G>A , CM000671.1:g.131377968G>A	GRCh37
NC_000009.10:g.130417789G>A	NCBI36
NG_027748.1:g.68132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5242G>A	ENSP00000486547.2:p.Asp1748Asn
ENST00000630866.2:c.5206G>A	ENSP00000487444.1:p.Asp1736Asn
ENST00000704202.1:c.5206G>A	ENSP00000515764.1:p.Asp1736Asn
ENST00000704203.1:c.5242G>A	ENSP00000515765.1:p.Asp1748Asn
ENST00000704204.1:c.4669G>A	ENSP00000515766.1:p.Asp1557Asn
ENST00000704206.1:c.2829G>A
ENST00000704207.1:c.816G>A
ENST00000706487.1:c.5206G>A	ENSP00000516412.1:p.Asp1736Asn
ENST00000372739.7:c.5206G>A MANE Select	ENSP00000361824.4:p.Asp1736Asn
ENST00000637434.1:n.434G>A
ENST00000358161.9:c.5131G>A	ENSP00000350882.6:p.Asp1711Asn
ENST00000372731.8:c.5191G>A	ENSP00000361816.4:p.Asp1731Asn
ENST00000372739.5:c.5206G>A	ENSP00000361824.3:p.Asp1736Asn
ENST00000476825.2:n.516G>A
ENST00000629378.2:n.545G>A
ENST00000630804.2:c.5146G>A	ENSP00000486308.1:p.Asp1716Asn
ENST00000630866.1:c.5206G>A	ENSP00000487444.1:p.Asp1736Asn
NM_001130438.2:c.5206G>A	NP_001123910.1:p.Asp1736Asn
NM_001195532.1:c.5131G>A	NP_001182461.1:p.Asp1711Asn
NM_003127.3:c.5191G>A	NP_003118.2:p.Asp1731Asn
XM_006717245.1:c.5242G>A	XP_006717308.1:p.Asp1748Asn
XM_006717246.1:c.5227G>A	XP_006717309.1:p.Asp1743Asn
XM_006717247.1:c.5182G>A	XP_006717310.1:p.Asp1728Asn
XM_006717248.1:c.5242G>A	XP_006717311.1:p.Asp1748Asn
XM_006717249.1:c.5227G>A	XP_006717312.1:p.Asp1743Asn
XM_006717250.1:c.5242G>A	XP_006717313.1:p.Asp1748Asn
XM_006717251.1:c.5146G>A	XP_006717314.1:p.Asp1716Asn
XM_006717252.1:c.5182G>A	XP_006717315.1:p.Asp1728Asn
XM_006717253.1:c.5167G>A	XP_006717316.1:p.Asp1723Asn
XM_006717254.1:c.5206G>A	XP_006717317.1:p.Asp1736Asn
NM_001363759.1:c.5206G>A	NP_001350688.1:p.Asp1736Asn
NM_001363765.1:c.5146G>A	NP_001350694.1:p.Asp1716Asn
XM_006717247.2:c.5182G>A	XP_006717310.1:p.Asp1728Asn
XM_006717248.2:c.5242G>A	XP_006717311.1:p.Asp1748Asn
XM_006717251.2:c.5146G>A	XP_006717314.1:p.Asp1716Asn
XM_006717252.3:c.5182G>A	XP_006717315.1:p.Asp1728Asn
XM_017015059.1:c.5206G>A	XP_016870548.1:p.Asp1736Asn
XM_017015060.1:c.5182G>A	XP_016870549.1:p.Asp1728Asn
NM_001130438.3:c.5206G>A MANE Select	NP_001123910.1:p.Asp1736Asn
NM_001195532.2:c.5131G>A	NP_001182461.1:p.Asp1711Asn
NM_001363759.2:c.5206G>A	NP_001350688.1:p.Asp1736Asn
NM_001363765.2:c.5146G>A	NP_001350694.1:p.Asp1716Asn
NM_001375310.1:c.5206G>A	NP_001362239.1:p.Asp1736Asn
NM_001375311.2:c.5206G>A	NP_001362240.1:p.Asp1736Asn
NM_001375312.2:c.5242G>A	NP_001362241.2:p.Asp1748Asn
NM_001375313.1:c.5206G>A	NP_001362242.1:p.Asp1736Asn
NM_001375314.2:c.5146G>A	NP_001362243.1:p.Asp1716Asn
NM_001375318.1:c.5242G>A	NP_001362247.1:p.Asp1748Asn
NM_003127.4:c.5191G>A	NP_003118.2:p.Asp1731Asn