Canonical Allele Identifier: CA467304832

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394507G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632228G>C , CM000671.2:g.128632228G>C	GRCh38
NC_000009.11:g.131394507G>C , CM000671.1:g.131394507G>C	GRCh37
NC_000009.10:g.130434328G>C	NCBI36
NG_027748.1:g.84671G>C
NG_034056.1:g.29623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6900G>C	ENSP00000486547.2:p.Thr2300=
ENST00000630866.2:c.6927G>C	ENSP00000487444.1:p.Thr2309=
ENST00000704202.1:c.6951G>C	ENSP00000515764.1:p.Thr2317=
ENST00000704203.1:c.6900G>C	ENSP00000515765.1:p.Thr2300=
ENST00000704204.1:c.6390G>C	ENSP00000515766.1:p.Thr2130=
ENST00000704206.1:c.4469G>C
ENST00000704207.1:c.2806G>C
ENST00000706487.1:c.6864G>C	ENSP00000516412.1:p.Thr2288=
ENST00000372739.7:c.6864G>C MANE Select	ENSP00000361824.4:p.Thr2288=
ENST00000636010.1:n.588G>C
ENST00000358161.9:c.6789G>C	ENSP00000350882.6:p.Thr2263=
ENST00000372731.8:c.6849G>C	ENSP00000361816.4:p.Thr2283=
ENST00000372739.5:c.6864G>C	ENSP00000361824.3:p.Thr2288=
ENST00000625980.2:n.818G>C
ENST00000630763.1:n.621G>C
ENST00000630804.2:c.6804G>C	ENSP00000486308.1:p.Thr2268=
ENST00000630866.1:c.6927G>C	ENSP00000487444.1:p.Thr2309=
NM_001130438.2:c.6864G>C	NP_001123910.1:p.Thr2288=
NM_001195532.1:c.6789G>C	NP_001182461.1:p.Thr2263=
NM_003127.3:c.6849G>C	NP_003118.2:p.Thr2283=
XM_006717245.1:c.6963G>C	XP_006717308.1:p.Thr2321=
XM_006717246.1:c.6948G>C	XP_006717309.1:p.Thr2316=
XM_006717247.1:c.6903G>C	XP_006717310.1:p.Thr2301=
XM_006717248.1:c.6900G>C	XP_006717311.1:p.Thr2300=
XM_006717249.1:c.6885G>C	XP_006717312.1:p.Thr2295=
XM_006717250.1:c.6882G>C	XP_006717313.1:p.Thr2294=
XM_006717251.1:c.6867G>C	XP_006717314.1:p.Thr2289=
XM_006717252.1:c.6840G>C	XP_006717315.1:p.Thr2280=
XM_006717253.1:c.6825G>C	XP_006717316.1:p.Thr2275=
XM_006717254.1:c.6927G>C	XP_006717317.1:p.Thr2309=
NM_001363759.1:c.6927G>C	NP_001350688.1:p.Thr2309=
NM_001363765.1:c.6804G>C	NP_001350694.1:p.Thr2268=
XM_006717247.2:c.6903G>C	XP_006717310.1:p.Thr2301=
XM_006717248.2:c.6900G>C	XP_006717311.1:p.Thr2300=
XM_006717251.2:c.6867G>C	XP_006717314.1:p.Thr2289=
XM_006717252.3:c.6840G>C	XP_006717315.1:p.Thr2280=
XM_017015059.1:c.6846G>C	XP_016870548.1:p.Thr2282=
XM_017015060.1:c.6822G>C	XP_016870549.1:p.Thr2274=
NM_001130438.3:c.6864G>C MANE Select	NP_001123910.1:p.Thr2288=
NM_001195532.2:c.6789G>C	NP_001182461.1:p.Thr2263=
NM_001363759.2:c.6927G>C	NP_001350688.1:p.Thr2309=
NM_001363765.2:c.6804G>C	NP_001350694.1:p.Thr2268=
NM_001375310.1:c.6951G>C	NP_001362239.1:p.Thr2317=
NM_001375311.2:c.6864G>C	NP_001362240.1:p.Thr2288=
NM_001375312.2:c.6900G>C	NP_001362241.2:p.Thr2300=
NM_001375313.1:c.6846G>C	NP_001362242.1:p.Thr2282=
NM_001375314.2:c.6804G>C	NP_001362243.1:p.Thr2268=
NM_001375318.1:c.6963G>C	NP_001362247.1:p.Thr2321=
NM_003127.4:c.6849G>C	NP_003118.2:p.Thr2283=