Canonical Allele Identifier: CA375097668

Gene: SPTAN1

Linked Data

• dbSNP Id: rs1859860729
• gnomAD v3: 9-128632187-G-A
• gnomAD v4: 9-128632187-G-A
• MyVariant Identifiers: chr9:g.131394466G>A (hg19) ; chr9:g.128632187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632187G>A , CM000671.2:g.128632187G>A	GRCh38
NC_000009.11:g.131394466G>A , CM000671.1:g.131394466G>A	GRCh37
NC_000009.10:g.130434287G>A	NCBI36
NG_027748.1:g.84630G>A
NG_034056.1:g.29664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6859G>A	ENSP00000486547.2:p.Ala2287Thr
ENST00000630866.2:c.6886G>A	ENSP00000487444.1:p.Ala2296Thr
ENST00000704202.1:c.6910G>A	ENSP00000515764.1:p.Ala2304Thr
ENST00000704203.1:c.6859G>A	ENSP00000515765.1:p.Ala2287Thr
ENST00000704204.1:c.6349G>A	ENSP00000515766.1:p.Ala2117Thr
ENST00000704206.1:c.4428G>A
ENST00000704207.1:c.2765G>A
ENST00000706487.1:c.6823G>A	ENSP00000516412.1:p.Ala2275Thr
ENST00000372739.7:c.6823G>A MANE Select	ENSP00000361824.4:p.Ala2275Thr
ENST00000636010.1:n.547G>A
ENST00000358161.9:c.6748G>A	ENSP00000350882.6:p.Ala2250Thr
ENST00000372731.8:c.6808G>A	ENSP00000361816.4:p.Ala2270Thr
ENST00000372739.5:c.6823G>A	ENSP00000361824.3:p.Ala2275Thr
ENST00000625980.2:n.777G>A
ENST00000630763.1:n.580G>A
ENST00000630804.2:c.6763G>A	ENSP00000486308.1:p.Ala2255Thr
ENST00000630866.1:c.6886G>A	ENSP00000487444.1:p.Ala2296Thr
NM_001130438.2:c.6823G>A	NP_001123910.1:p.Ala2275Thr
NM_001195532.1:c.6748G>A	NP_001182461.1:p.Ala2250Thr
NM_003127.3:c.6808G>A	NP_003118.2:p.Ala2270Thr
XM_006717245.1:c.6922G>A	XP_006717308.1:p.Ala2308Thr
XM_006717246.1:c.6907G>A	XP_006717309.1:p.Ala2303Thr
XM_006717247.1:c.6862G>A	XP_006717310.1:p.Ala2288Thr
XM_006717248.1:c.6859G>A	XP_006717311.1:p.Ala2287Thr
XM_006717249.1:c.6844G>A	XP_006717312.1:p.Ala2282Thr
XM_006717250.1:c.6841G>A	XP_006717313.1:p.Ala2281Thr
XM_006717251.1:c.6826G>A	XP_006717314.1:p.Ala2276Thr
XM_006717252.1:c.6799G>A	XP_006717315.1:p.Ala2267Thr
XM_006717253.1:c.6784G>A	XP_006717316.1:p.Ala2262Thr
XM_006717254.1:c.6886G>A	XP_006717317.1:p.Ala2296Thr
NM_001363759.1:c.6886G>A	NP_001350688.1:p.Ala2296Thr
NM_001363765.1:c.6763G>A	NP_001350694.1:p.Ala2255Thr
XM_006717247.2:c.6862G>A	XP_006717310.1:p.Ala2288Thr
XM_006717248.2:c.6859G>A	XP_006717311.1:p.Ala2287Thr
XM_006717251.2:c.6826G>A	XP_006717314.1:p.Ala2276Thr
XM_006717252.3:c.6799G>A	XP_006717315.1:p.Ala2267Thr
XM_017015059.1:c.6805G>A	XP_016870548.1:p.Ala2269Thr
XM_017015060.1:c.6781G>A	XP_016870549.1:p.Ala2261Thr
NM_001130438.3:c.6823G>A MANE Select	NP_001123910.1:p.Ala2275Thr
NM_001195532.2:c.6748G>A	NP_001182461.1:p.Ala2250Thr
NM_001363759.2:c.6886G>A	NP_001350688.1:p.Ala2296Thr
NM_001363765.2:c.6763G>A	NP_001350694.1:p.Ala2255Thr
NM_001375310.1:c.6910G>A	NP_001362239.1:p.Ala2304Thr
NM_001375311.2:c.6823G>A	NP_001362240.1:p.Ala2275Thr
NM_001375312.2:c.6859G>A	NP_001362241.2:p.Ala2287Thr
NM_001375313.1:c.6805G>A	NP_001362242.1:p.Ala2269Thr
NM_001375314.2:c.6763G>A	NP_001362243.1:p.Ala2255Thr
NM_001375318.1:c.6922G>A	NP_001362247.1:p.Ala2308Thr
NM_003127.4:c.6808G>A	NP_003118.2:p.Ala2270Thr