Canonical Allele Identifier: CA375098041

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394497A>C (hg19) ; chr9:g.128632218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632218A>C , CM000671.2:g.128632218A>C	GRCh38
NC_000009.11:g.131394497A>C , CM000671.1:g.131394497A>C	GRCh37
NC_000009.10:g.130434318A>C	NCBI36
NG_027748.1:g.84661A>C
NG_034056.1:g.29633T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6890A>C	ENSP00000486547.2:p.Asn2297Thr
ENST00000630866.2:c.6917A>C	ENSP00000487444.1:p.Asn2306Thr
ENST00000704202.1:c.6941A>C	ENSP00000515764.1:p.Asn2314Thr
ENST00000704203.1:c.6890A>C	ENSP00000515765.1:p.Asn2297Thr
ENST00000704204.1:c.6380A>C	ENSP00000515766.1:p.Asn2127Thr
ENST00000704206.1:c.4459A>C
ENST00000704207.1:c.2796A>C
ENST00000706487.1:c.6854A>C	ENSP00000516412.1:p.Asn2285Thr
ENST00000372739.7:c.6854A>C MANE Select	ENSP00000361824.4:p.Asn2285Thr
ENST00000636010.1:n.578A>C
ENST00000358161.9:c.6779A>C	ENSP00000350882.6:p.Asn2260Thr
ENST00000372731.8:c.6839A>C	ENSP00000361816.4:p.Asn2280Thr
ENST00000372739.5:c.6854A>C	ENSP00000361824.3:p.Asn2285Thr
ENST00000625980.2:n.808A>C
ENST00000630763.1:n.611A>C
ENST00000630804.2:c.6794A>C	ENSP00000486308.1:p.Asn2265Thr
ENST00000630866.1:c.6917A>C	ENSP00000487444.1:p.Asn2306Thr
NM_001130438.2:c.6854A>C	NP_001123910.1:p.Asn2285Thr
NM_001195532.1:c.6779A>C	NP_001182461.1:p.Asn2260Thr
NM_003127.3:c.6839A>C	NP_003118.2:p.Asn2280Thr
XM_006717245.1:c.6953A>C	XP_006717308.1:p.Asn2318Thr
XM_006717246.1:c.6938A>C	XP_006717309.1:p.Asn2313Thr
XM_006717247.1:c.6893A>C	XP_006717310.1:p.Asn2298Thr
XM_006717248.1:c.6890A>C	XP_006717311.1:p.Asn2297Thr
XM_006717249.1:c.6875A>C	XP_006717312.1:p.Asn2292Thr
XM_006717250.1:c.6872A>C	XP_006717313.1:p.Asn2291Thr
XM_006717251.1:c.6857A>C	XP_006717314.1:p.Asn2286Thr
XM_006717252.1:c.6830A>C	XP_006717315.1:p.Asn2277Thr
XM_006717253.1:c.6815A>C	XP_006717316.1:p.Asn2272Thr
XM_006717254.1:c.6917A>C	XP_006717317.1:p.Asn2306Thr
NM_001363759.1:c.6917A>C	NP_001350688.1:p.Asn2306Thr
NM_001363765.1:c.6794A>C	NP_001350694.1:p.Asn2265Thr
XM_006717247.2:c.6893A>C	XP_006717310.1:p.Asn2298Thr
XM_006717248.2:c.6890A>C	XP_006717311.1:p.Asn2297Thr
XM_006717251.2:c.6857A>C	XP_006717314.1:p.Asn2286Thr
XM_006717252.3:c.6830A>C	XP_006717315.1:p.Asn2277Thr
XM_017015059.1:c.6836A>C	XP_016870548.1:p.Asn2279Thr
XM_017015060.1:c.6812A>C	XP_016870549.1:p.Asn2271Thr
NM_001130438.3:c.6854A>C MANE Select	NP_001123910.1:p.Asn2285Thr
NM_001195532.2:c.6779A>C	NP_001182461.1:p.Asn2260Thr
NM_001363759.2:c.6917A>C	NP_001350688.1:p.Asn2306Thr
NM_001363765.2:c.6794A>C	NP_001350694.1:p.Asn2265Thr
NM_001375310.1:c.6941A>C	NP_001362239.1:p.Asn2314Thr
NM_001375311.2:c.6854A>C	NP_001362240.1:p.Asn2285Thr
NM_001375312.2:c.6890A>C	NP_001362241.2:p.Asn2297Thr
NM_001375313.1:c.6836A>C	NP_001362242.1:p.Asn2279Thr
NM_001375314.2:c.6794A>C	NP_001362243.1:p.Asn2265Thr
NM_001375318.1:c.6953A>C	NP_001362247.1:p.Asn2318Thr
NM_003127.4:c.6839A>C	NP_003118.2:p.Asn2280Thr