Canonical Allele Identifier: CA375098685

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394550G>T (hg19) ; chr9:g.128632271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632271G>T , CM000671.2:g.128632271G>T	GRCh38
NC_000009.11:g.131394550G>T , CM000671.1:g.131394550G>T	GRCh37
NC_000009.10:g.130434371G>T	NCBI36
NG_027748.1:g.84714G>T
NG_034056.1:g.29580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6943G>T	ENSP00000486547.2:p.Asp2315Tyr
ENST00000630866.2:c.6970G>T	ENSP00000487444.1:p.Asp2324Tyr
ENST00000704202.1:c.6994G>T	ENSP00000515764.1:p.Asp2332Tyr
ENST00000704203.1:c.6943G>T	ENSP00000515765.1:p.Asp2315Tyr
ENST00000704204.1:c.6433G>T	ENSP00000515766.1:p.Asp2145Tyr
ENST00000704206.1:c.4512G>T
ENST00000704207.1:c.2849G>T
ENST00000706487.1:c.6907G>T	ENSP00000516412.1:p.Asp2303Tyr
ENST00000372739.7:c.6907G>T MANE Select	ENSP00000361824.4:p.Asp2303Tyr
ENST00000636010.1:n.631G>T
ENST00000358161.9:c.6832G>T	ENSP00000350882.6:p.Asp2278Tyr
ENST00000372731.8:c.6892G>T	ENSP00000361816.4:p.Asp2298Tyr
ENST00000372739.5:c.6907G>T	ENSP00000361824.3:p.Asp2303Tyr
ENST00000625980.2:n.861G>T
ENST00000630763.1:n.664G>T
ENST00000630804.2:c.6847G>T	ENSP00000486308.1:p.Asp2283Tyr
ENST00000630866.1:c.6970G>T	ENSP00000487444.1:p.Asp2324Tyr
NM_001130438.2:c.6907G>T	NP_001123910.1:p.Asp2303Tyr
NM_001195532.1:c.6832G>T	NP_001182461.1:p.Asp2278Tyr
NM_003127.3:c.6892G>T	NP_003118.2:p.Asp2298Tyr
XM_006717245.1:c.7006G>T	XP_006717308.1:p.Asp2336Tyr
XM_006717246.1:c.6991G>T	XP_006717309.1:p.Asp2331Tyr
XM_006717247.1:c.6946G>T	XP_006717310.1:p.Asp2316Tyr
XM_006717248.1:c.6943G>T	XP_006717311.1:p.Asp2315Tyr
XM_006717249.1:c.6928G>T	XP_006717312.1:p.Asp2310Tyr
XM_006717250.1:c.6925G>T	XP_006717313.1:p.Asp2309Tyr
XM_006717251.1:c.6910G>T	XP_006717314.1:p.Asp2304Tyr
XM_006717252.1:c.6883G>T	XP_006717315.1:p.Asp2295Tyr
XM_006717253.1:c.6868G>T	XP_006717316.1:p.Asp2290Tyr
XM_006717254.1:c.6970G>T	XP_006717317.1:p.Asp2324Tyr
NM_001363759.1:c.6970G>T	NP_001350688.1:p.Asp2324Tyr
NM_001363765.1:c.6847G>T	NP_001350694.1:p.Asp2283Tyr
XM_006717247.2:c.6946G>T	XP_006717310.1:p.Asp2316Tyr
XM_006717248.2:c.6943G>T	XP_006717311.1:p.Asp2315Tyr
XM_006717251.2:c.6910G>T	XP_006717314.1:p.Asp2304Tyr
XM_006717252.3:c.6883G>T	XP_006717315.1:p.Asp2295Tyr
XM_017015059.1:c.6889G>T	XP_016870548.1:p.Asp2297Tyr
XM_017015060.1:c.6865G>T	XP_016870549.1:p.Asp2289Tyr
NM_001130438.3:c.6907G>T MANE Select	NP_001123910.1:p.Asp2303Tyr
NM_001195532.2:c.6832G>T	NP_001182461.1:p.Asp2278Tyr
NM_001363759.2:c.6970G>T	NP_001350688.1:p.Asp2324Tyr
NM_001363765.2:c.6847G>T	NP_001350694.1:p.Asp2283Tyr
NM_001375310.1:c.6994G>T	NP_001362239.1:p.Asp2332Tyr
NM_001375311.2:c.6907G>T	NP_001362240.1:p.Asp2303Tyr
NM_001375312.2:c.6943G>T	NP_001362241.2:p.Asp2315Tyr
NM_001375313.1:c.6889G>T	NP_001362242.1:p.Asp2297Tyr
NM_001375314.2:c.6847G>T	NP_001362243.1:p.Asp2283Tyr
NM_001375318.1:c.7006G>T	NP_001362247.1:p.Asp2336Tyr
NM_003127.4:c.6892G>T	NP_003118.2:p.Asp2298Tyr