Canonical Allele Identifier: CA5265926

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 461236
• ClinVar RCV Id: RCV000551834
• dbSNP Id: rs76767787
• ExAC: 9:131394528 C / T
• gnomAD v2: 9-131394528-C-T
• gnomAD v3: 9-128632249-C-T
• gnomAD v4: 9-128632249-C-T
• COSMIC: COSM1755970 ; COSM1755971
• MyVariant Identifiers: chr9:g.131394528C>T (hg19) ; chr9:g.128632249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632249C>T , CM000671.2:g.128632249C>T	GRCh38
NC_000009.11:g.131394528C>T , CM000671.1:g.131394528C>T	GRCh37
NC_000009.10:g.130434349C>T	NCBI36
NG_027748.1:g.84692C>T
NG_034056.1:g.29602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6921C>T	ENSP00000486547.2:p.Leu2307=
ENST00000630866.2:c.6948C>T	ENSP00000487444.1:p.Leu2316=
ENST00000704202.1:c.6972C>T	ENSP00000515764.1:p.Leu2324=
ENST00000704203.1:c.6921C>T	ENSP00000515765.1:p.Leu2307=
ENST00000704204.1:c.6411C>T	ENSP00000515766.1:p.Leu2137=
ENST00000704206.1:c.4490C>T
ENST00000704207.1:c.2827C>T
ENST00000706487.1:c.6885C>T	ENSP00000516412.1:p.Leu2295=
ENST00000372739.7:c.6885C>T MANE Select	ENSP00000361824.4:p.Leu2295=
ENST00000636010.1:n.609C>T
ENST00000358161.9:c.6810C>T	ENSP00000350882.6:p.Leu2270=
ENST00000372731.8:c.6870C>T	ENSP00000361816.4:p.Leu2290=
ENST00000372739.5:c.6885C>T	ENSP00000361824.3:p.Leu2295=
ENST00000625980.2:n.839C>T
ENST00000630763.1:n.642C>T
ENST00000630804.2:c.6825C>T	ENSP00000486308.1:p.Leu2275=
ENST00000630866.1:c.6948C>T	ENSP00000487444.1:p.Leu2316=
NM_001130438.2:c.6885C>T	NP_001123910.1:p.Leu2295=
NM_001195532.1:c.6810C>T	NP_001182461.1:p.Leu2270=
NM_003127.3:c.6870C>T	NP_003118.2:p.Leu2290=
XM_006717245.1:c.6984C>T	XP_006717308.1:p.Leu2328=
XM_006717246.1:c.6969C>T	XP_006717309.1:p.Leu2323=
XM_006717247.1:c.6924C>T	XP_006717310.1:p.Leu2308=
XM_006717248.1:c.6921C>T	XP_006717311.1:p.Leu2307=
XM_006717249.1:c.6906C>T	XP_006717312.1:p.Leu2302=
XM_006717250.1:c.6903C>T	XP_006717313.1:p.Leu2301=
XM_006717251.1:c.6888C>T	XP_006717314.1:p.Leu2296=
XM_006717252.1:c.6861C>T	XP_006717315.1:p.Leu2287=
XM_006717253.1:c.6846C>T	XP_006717316.1:p.Leu2282=
XM_006717254.1:c.6948C>T	XP_006717317.1:p.Leu2316=
NM_001363759.1:c.6948C>T	NP_001350688.1:p.Leu2316=
NM_001363765.1:c.6825C>T	NP_001350694.1:p.Leu2275=
XM_006717247.2:c.6924C>T	XP_006717310.1:p.Leu2308=
XM_006717248.2:c.6921C>T	XP_006717311.1:p.Leu2307=
XM_006717251.2:c.6888C>T	XP_006717314.1:p.Leu2296=
XM_006717252.3:c.6861C>T	XP_006717315.1:p.Leu2287=
XM_017015059.1:c.6867C>T	XP_016870548.1:p.Leu2289=
XM_017015060.1:c.6843C>T	XP_016870549.1:p.Leu2281=
NM_001130438.3:c.6885C>T MANE Select	NP_001123910.1:p.Leu2295=
NM_001195532.2:c.6810C>T	NP_001182461.1:p.Leu2270=
NM_001363759.2:c.6948C>T	NP_001350688.1:p.Leu2316=
NM_001363765.2:c.6825C>T	NP_001350694.1:p.Leu2275=
NM_001375310.1:c.6972C>T	NP_001362239.1:p.Leu2324=
NM_001375311.2:c.6885C>T	NP_001362240.1:p.Leu2295=
NM_001375312.2:c.6921C>T	NP_001362241.2:p.Leu2307=
NM_001375313.1:c.6867C>T	NP_001362242.1:p.Leu2289=
NM_001375314.2:c.6825C>T	NP_001362243.1:p.Leu2275=
NM_001375318.1:c.6984C>T	NP_001362247.1:p.Leu2328=
NM_003127.4:c.6870C>T	NP_003118.2:p.Leu2290=