Canonical Allele Identifier: CA318780

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 207376
• ClinVar RCV Id: RCV000189551 ; RCV000464908 ; RCV001808528 ; RCV002345681
• dbSNP Id: rs148402616
• ExAC: 9:131380332 C / T
• gnomAD v2: 9-131380332-C-T
• gnomAD v3: 9-128618053-C-T
• gnomAD v4: 9-128618053-C-T
• MyVariant Identifiers: chr9:g.131380332C>T (hg19) ; chr9:g.128618053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128618053C>T , CM000671.2:g.128618053C>T	GRCh38
NC_000009.11:g.131380332C>T , CM000671.1:g.131380332C>T	GRCh37
NC_000009.10:g.130420153C>T	NCBI36
NG_027748.1:g.70496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5581C>T	ENSP00000486547.2:p.Arg1861Trp
ENST00000630866.2:c.5545C>T	ENSP00000487444.1:p.Arg1849Trp
ENST00000704202.1:c.5545C>T	ENSP00000515764.1:p.Arg1849Trp
ENST00000704203.1:c.5581C>T	ENSP00000515765.1:p.Arg1861Trp
ENST00000704204.1:c.5008C>T	ENSP00000515766.1:p.Arg1670Trp
ENST00000704206.1:c.3168C>T
ENST00000704207.1:c.1155C>T
ENST00000706487.1:c.5545C>T	ENSP00000516412.1:p.Arg1849Trp
ENST00000372739.7:c.5545C>T MANE Select	ENSP00000361824.4:p.Arg1849Trp
ENST00000637434.1:n.773C>T
ENST00000358161.9:c.5470C>T	ENSP00000350882.6:p.Arg1824Trp
ENST00000372731.8:c.5530C>T	ENSP00000361816.4:p.Arg1844Trp
ENST00000372739.5:c.5545C>T	ENSP00000361824.3:p.Arg1849Trp
ENST00000630804.2:c.5485C>T	ENSP00000486308.1:p.Arg1829Trp
ENST00000630866.1:c.5545C>T	ENSP00000487444.1:p.Arg1849Trp
NM_001130438.2:c.5545C>T	NP_001123910.1:p.Arg1849Trp
NM_001195532.1:c.5470C>T	NP_001182461.1:p.Arg1824Trp
NM_003127.3:c.5530C>T	NP_003118.2:p.Arg1844Trp
XM_006717245.1:c.5581C>T	XP_006717308.1:p.Arg1861Trp
XM_006717246.1:c.5566C>T	XP_006717309.1:p.Arg1856Trp
XM_006717247.1:c.5521C>T	XP_006717310.1:p.Arg1841Trp
XM_006717248.1:c.5581C>T	XP_006717311.1:p.Arg1861Trp
XM_006717249.1:c.5566C>T	XP_006717312.1:p.Arg1856Trp
XM_006717250.1:c.5581C>T	XP_006717313.1:p.Arg1861Trp
XM_006717251.1:c.5485C>T	XP_006717314.1:p.Arg1829Trp
XM_006717252.1:c.5521C>T	XP_006717315.1:p.Arg1841Trp
XM_006717253.1:c.5506C>T	XP_006717316.1:p.Arg1836Trp
XM_006717254.1:c.5545C>T	XP_006717317.1:p.Arg1849Trp
NM_001363759.1:c.5545C>T	NP_001350688.1:p.Arg1849Trp
NM_001363765.1:c.5485C>T	NP_001350694.1:p.Arg1829Trp
XM_006717247.2:c.5521C>T	XP_006717310.1:p.Arg1841Trp
XM_006717248.2:c.5581C>T	XP_006717311.1:p.Arg1861Trp
XM_006717251.2:c.5485C>T	XP_006717314.1:p.Arg1829Trp
XM_006717252.3:c.5521C>T	XP_006717315.1:p.Arg1841Trp
XM_017015059.1:c.5545C>T	XP_016870548.1:p.Arg1849Trp
XM_017015060.1:c.5521C>T	XP_016870549.1:p.Arg1841Trp
NM_001130438.3:c.5545C>T MANE Select	NP_001123910.1:p.Arg1849Trp
NM_001195532.2:c.5470C>T	NP_001182461.1:p.Arg1824Trp
NM_001363759.2:c.5545C>T	NP_001350688.1:p.Arg1849Trp
NM_001363765.2:c.5485C>T	NP_001350694.1:p.Arg1829Trp
NM_001375310.1:c.5545C>T	NP_001362239.1:p.Arg1849Trp
NM_001375311.2:c.5545C>T	NP_001362240.1:p.Arg1849Trp
NM_001375312.2:c.5581C>T	NP_001362241.2:p.Arg1861Trp
NM_001375313.1:c.5545C>T	NP_001362242.1:p.Arg1849Trp
NM_001375314.2:c.5485C>T	NP_001362243.1:p.Arg1829Trp
NM_001375318.1:c.5581C>T	NP_001362247.1:p.Arg1861Trp
NM_003127.4:c.5530C>T	NP_003118.2:p.Arg1844Trp