Canonical Allele Identifier: CA467485005

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394600C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632321C>G , CM000671.2:g.128632321C>G	GRCh38
NC_000009.11:g.131394600C>G , CM000671.1:g.131394600C>G	GRCh37
NC_000009.10:g.130434421C>G	NCBI36
NG_027748.1:g.84764C>G
NG_034056.1:g.29530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6993C>G	ENSP00000486547.2:p.Ala2331=
ENST00000630866.2:c.7020C>G	ENSP00000487444.1:p.Ala2340=
ENST00000704202.1:c.7044C>G	ENSP00000515764.1:p.Ala2348=
ENST00000704203.1:c.6993C>G	ENSP00000515765.1:p.Ala2331=
ENST00000704204.1:c.6483C>G	ENSP00000515766.1:p.Ala2161=
ENST00000704206.1:c.4562C>G
ENST00000704207.1:c.2899C>G
ENST00000706487.1:c.6957C>G	ENSP00000516412.1:p.Ala2319=
ENST00000372739.7:c.6957C>G MANE Select	ENSP00000361824.4:p.Ala2319=
ENST00000636010.1:n.681C>G
ENST00000358161.9:c.6882C>G	ENSP00000350882.6:p.Ala2294=
ENST00000372731.8:c.6942C>G	ENSP00000361816.4:p.Ala2314=
ENST00000372739.5:c.6957C>G	ENSP00000361824.3:p.Ala2319=
ENST00000625980.2:n.911C>G
ENST00000630763.1:n.714C>G
ENST00000630804.2:c.6897C>G	ENSP00000486308.1:p.Ala2299=
ENST00000630866.1:c.7020C>G	ENSP00000487444.1:p.Ala2340=
NM_001130438.2:c.6957C>G	NP_001123910.1:p.Ala2319=
NM_001195532.1:c.6882C>G	NP_001182461.1:p.Ala2294=
NM_003127.3:c.6942C>G	NP_003118.2:p.Ala2314=
XM_006717245.1:c.7056C>G	XP_006717308.1:p.Ala2352=
XM_006717246.1:c.7041C>G	XP_006717309.1:p.Ala2347=
XM_006717247.1:c.6996C>G	XP_006717310.1:p.Ala2332=
XM_006717248.1:c.6993C>G	XP_006717311.1:p.Ala2331=
XM_006717249.1:c.6978C>G	XP_006717312.1:p.Ala2326=
XM_006717250.1:c.6975C>G	XP_006717313.1:p.Ala2325=
XM_006717251.1:c.6960C>G	XP_006717314.1:p.Ala2320=
XM_006717252.1:c.6933C>G	XP_006717315.1:p.Ala2311=
XM_006717253.1:c.6918C>G	XP_006717316.1:p.Ala2306=
XM_006717254.1:c.7020C>G	XP_006717317.1:p.Ala2340=
NM_001363759.1:c.7020C>G	NP_001350688.1:p.Ala2340=
NM_001363765.1:c.6897C>G	NP_001350694.1:p.Ala2299=
XM_006717247.2:c.6996C>G	XP_006717310.1:p.Ala2332=
XM_006717248.2:c.6993C>G	XP_006717311.1:p.Ala2331=
XM_006717251.2:c.6960C>G	XP_006717314.1:p.Ala2320=
XM_006717252.3:c.6933C>G	XP_006717315.1:p.Ala2311=
XM_017015059.1:c.6939C>G	XP_016870548.1:p.Ala2313=
XM_017015060.1:c.6915C>G	XP_016870549.1:p.Ala2305=
NM_001130438.3:c.6957C>G MANE Select	NP_001123910.1:p.Ala2319=
NM_001195532.2:c.6882C>G	NP_001182461.1:p.Ala2294=
NM_001363759.2:c.7020C>G	NP_001350688.1:p.Ala2340=
NM_001363765.2:c.6897C>G	NP_001350694.1:p.Ala2299=
NM_001375310.1:c.7044C>G	NP_001362239.1:p.Ala2348=
NM_001375311.2:c.6957C>G	NP_001362240.1:p.Ala2319=
NM_001375312.2:c.6993C>G	NP_001362241.2:p.Ala2331=
NM_001375313.1:c.6939C>G	NP_001362242.1:p.Ala2313=
NM_001375314.2:c.6897C>G	NP_001362243.1:p.Ala2299=
NM_001375318.1:c.7056C>G	NP_001362247.1:p.Ala2352=
NM_003127.4:c.6942C>G	NP_003118.2:p.Ala2314=