Canonical Allele Identifier: CA467304822

Gene: SPTAN1

Linked Data

• dbSNP Id: rs1235449303
• MyVariant Identifiers: chr9:g.131394486C>T (hg19) ; chr9:g.128632207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632207C>T , CM000671.2:g.128632207C>T	GRCh38
NC_000009.11:g.131394486C>T , CM000671.1:g.131394486C>T	GRCh37
NC_000009.10:g.130434307C>T	NCBI36
NG_027748.1:g.84650C>T
NG_034056.1:g.29644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6879C>T	ENSP00000486547.2:p.Leu2293=
ENST00000630866.2:c.6906C>T	ENSP00000487444.1:p.Leu2302=
ENST00000704202.1:c.6930C>T	ENSP00000515764.1:p.Leu2310=
ENST00000704203.1:c.6879C>T	ENSP00000515765.1:p.Leu2293=
ENST00000704204.1:c.6369C>T	ENSP00000515766.1:p.Leu2123=
ENST00000704206.1:c.4448C>T
ENST00000704207.1:c.2785C>T
ENST00000706487.1:c.6843C>T	ENSP00000516412.1:p.Leu2281=
ENST00000372739.7:c.6843C>T MANE Select	ENSP00000361824.4:p.Leu2281=
ENST00000636010.1:n.567C>T
ENST00000358161.9:c.6768C>T	ENSP00000350882.6:p.Leu2256=
ENST00000372731.8:c.6828C>T	ENSP00000361816.4:p.Leu2276=
ENST00000372739.5:c.6843C>T	ENSP00000361824.3:p.Leu2281=
ENST00000625980.2:n.797C>T
ENST00000630763.1:n.600C>T
ENST00000630804.2:c.6783C>T	ENSP00000486308.1:p.Leu2261=
ENST00000630866.1:c.6906C>T	ENSP00000487444.1:p.Leu2302=
NM_001130438.2:c.6843C>T	NP_001123910.1:p.Leu2281=
NM_001195532.1:c.6768C>T	NP_001182461.1:p.Leu2256=
NM_003127.3:c.6828C>T	NP_003118.2:p.Leu2276=
XM_006717245.1:c.6942C>T	XP_006717308.1:p.Leu2314=
XM_006717246.1:c.6927C>T	XP_006717309.1:p.Leu2309=
XM_006717247.1:c.6882C>T	XP_006717310.1:p.Leu2294=
XM_006717248.1:c.6879C>T	XP_006717311.1:p.Leu2293=
XM_006717249.1:c.6864C>T	XP_006717312.1:p.Leu2288=
XM_006717250.1:c.6861C>T	XP_006717313.1:p.Leu2287=
XM_006717251.1:c.6846C>T	XP_006717314.1:p.Leu2282=
XM_006717252.1:c.6819C>T	XP_006717315.1:p.Leu2273=
XM_006717253.1:c.6804C>T	XP_006717316.1:p.Leu2268=
XM_006717254.1:c.6906C>T	XP_006717317.1:p.Leu2302=
NM_001363759.1:c.6906C>T	NP_001350688.1:p.Leu2302=
NM_001363765.1:c.6783C>T	NP_001350694.1:p.Leu2261=
XM_006717247.2:c.6882C>T	XP_006717310.1:p.Leu2294=
XM_006717248.2:c.6879C>T	XP_006717311.1:p.Leu2293=
XM_006717251.2:c.6846C>T	XP_006717314.1:p.Leu2282=
XM_006717252.3:c.6819C>T	XP_006717315.1:p.Leu2273=
XM_017015059.1:c.6825C>T	XP_016870548.1:p.Leu2275=
XM_017015060.1:c.6801C>T	XP_016870549.1:p.Leu2267=
NM_001130438.3:c.6843C>T MANE Select	NP_001123910.1:p.Leu2281=
NM_001195532.2:c.6768C>T	NP_001182461.1:p.Leu2256=
NM_001363759.2:c.6906C>T	NP_001350688.1:p.Leu2302=
NM_001363765.2:c.6783C>T	NP_001350694.1:p.Leu2261=
NM_001375310.1:c.6930C>T	NP_001362239.1:p.Leu2310=
NM_001375311.2:c.6843C>T	NP_001362240.1:p.Leu2281=
NM_001375312.2:c.6879C>T	NP_001362241.2:p.Leu2293=
NM_001375313.1:c.6825C>T	NP_001362242.1:p.Leu2275=
NM_001375314.2:c.6783C>T	NP_001362243.1:p.Leu2261=
NM_001375318.1:c.6942C>T	NP_001362247.1:p.Leu2314=
NM_003127.4:c.6828C>T	NP_003118.2:p.Leu2276=