Canonical Allele Identifier: CA5266102

Gene: SPTAN1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128633295C>T , CM000671.2:g.128633295C>T	GRCh38
NC_000009.11:g.131395574C>T , CM000671.1:g.131395574C>T	GRCh37
NC_000009.10:g.130435395C>T	NCBI36
NG_027748.1:g.85738C>T
NG_034056.1:g.28556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.7431C>T	ENSP00000486547.2:p.Phe2477=
ENST00000630866.2:c.7458C>T	ENSP00000487444.1:p.Phe2486=
ENST00000704202.1:c.7482C>T	ENSP00000515764.1:p.Phe2494=
ENST00000704203.1:c.7431C>T	ENSP00000515765.1:p.Phe2477=
ENST00000704204.1:c.6921C>T	ENSP00000515766.1:p.Phe2307=
ENST00000704206.1:c.5000C>T
ENST00000704207.1:c.3337C>T
ENST00000706487.1:c.7395C>T	ENSP00000516412.1:p.Phe2465=
ENST00000372739.7:c.7395C>T MANE Select	ENSP00000361824.4:p.Phe2465=
ENST00000636010.1:n.1119C>T
ENST00000358161.9:c.7320C>T	ENSP00000350882.6:p.Phe2440=
ENST00000372731.8:c.7380C>T	ENSP00000361816.4:p.Phe2460=
ENST00000372739.5:c.7395C>T	ENSP00000361824.3:p.Phe2465=
ENST00000625980.2:n.1349C>T
ENST00000630147.1:n.418C>T
ENST00000630763.1:n.1152C>T
ENST00000630804.2:c.7335C>T	ENSP00000486308.1:p.Phe2445=
ENST00000630866.1:c.7458C>T	ENSP00000487444.1:p.Phe2486=
NM_001130438.2:c.7395C>T	NP_001123910.1:p.Phe2465=
NM_001195532.1:c.7320C>T	NP_001182461.1:p.Phe2440=
NM_003127.3:c.7380C>T	NP_003118.2:p.Phe2460=
XM_006717245.1:c.7494C>T	XP_006717308.1:p.Phe2498=
XM_006717246.1:c.7479C>T	XP_006717309.1:p.Phe2493=
XM_006717247.1:c.7434C>T	XP_006717310.1:p.Phe2478=
XM_006717248.1:c.7431C>T	XP_006717311.1:p.Phe2477=
XM_006717249.1:c.7416C>T	XP_006717312.1:p.Phe2472=
XM_006717250.1:c.7413C>T	XP_006717313.1:p.Phe2471=
XM_006717251.1:c.7398C>T	XP_006717314.1:p.Phe2466=
XM_006717252.1:c.7371C>T	XP_006717315.1:p.Phe2457=
XM_006717253.1:c.7356C>T	XP_006717316.1:p.Phe2452=
XM_006717254.1:c.7458C>T	XP_006717317.1:p.Phe2486=
NM_001363759.1:c.7458C>T	NP_001350688.1:p.Phe2486=
NM_001363765.1:c.7335C>T	NP_001350694.1:p.Phe2445=
XM_006717247.2:c.7434C>T	XP_006717310.1:p.Phe2478=
XM_006717248.2:c.7431C>T	XP_006717311.1:p.Phe2477=
XM_006717251.2:c.7398C>T	XP_006717314.1:p.Phe2466=
XM_006717252.3:c.7371C>T	XP_006717315.1:p.Phe2457=
XM_017015059.1:c.7377C>T	XP_016870548.1:p.Phe2459=
XM_017015060.1:c.7353C>T	XP_016870549.1:p.Phe2451=
NM_001130438.3:c.7395C>T MANE Select	NP_001123910.1:p.Phe2465=
NM_001195532.2:c.7320C>T	NP_001182461.1:p.Phe2440=
NM_001363759.2:c.7458C>T	NP_001350688.1:p.Phe2486=
NM_001363765.2:c.7335C>T	NP_001350694.1:p.Phe2445=
NM_001375310.1:c.7482C>T	NP_001362239.1:p.Phe2494=
NM_001375311.2:c.7395C>T	NP_001362240.1:p.Phe2465=
NM_001375312.2:c.7431C>T	NP_001362241.2:p.Phe2477=
NM_001375313.1:c.7377C>T	NP_001362242.1:p.Phe2459=
NM_001375314.2:c.7335C>T	NP_001362243.1:p.Phe2445=
NM_001375318.1:c.7494C>T	NP_001362247.1:p.Phe2498=
NM_003127.4:c.7380C>T	NP_003118.2:p.Phe2460=