Canonical Allele Identifier: CA375098294

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394515G>A (hg19) ; chr9:g.128632236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632236G>A , CM000671.2:g.128632236G>A	GRCh38
NC_000009.11:g.131394515G>A , CM000671.1:g.131394515G>A	GRCh37
NC_000009.10:g.130434336G>A	NCBI36
NG_027748.1:g.84679G>A
NG_034056.1:g.29615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6908G>A	ENSP00000486547.2:p.Ser2303Asn
ENST00000630866.2:c.6935G>A	ENSP00000487444.1:p.Ser2312Asn
ENST00000704202.1:c.6959G>A	ENSP00000515764.1:p.Ser2320Asn
ENST00000704203.1:c.6908G>A	ENSP00000515765.1:p.Ser2303Asn
ENST00000704204.1:c.6398G>A	ENSP00000515766.1:p.Ser2133Asn
ENST00000704206.1:c.4477G>A
ENST00000704207.1:c.2814G>A
ENST00000706487.1:c.6872G>A	ENSP00000516412.1:p.Ser2291Asn
ENST00000372739.7:c.6872G>A MANE Select	ENSP00000361824.4:p.Ser2291Asn
ENST00000636010.1:n.596G>A
ENST00000358161.9:c.6797G>A	ENSP00000350882.6:p.Ser2266Asn
ENST00000372731.8:c.6857G>A	ENSP00000361816.4:p.Ser2286Asn
ENST00000372739.5:c.6872G>A	ENSP00000361824.3:p.Ser2291Asn
ENST00000625980.2:n.826G>A
ENST00000630763.1:n.629G>A
ENST00000630804.2:c.6812G>A	ENSP00000486308.1:p.Ser2271Asn
ENST00000630866.1:c.6935G>A	ENSP00000487444.1:p.Ser2312Asn
NM_001130438.2:c.6872G>A	NP_001123910.1:p.Ser2291Asn
NM_001195532.1:c.6797G>A	NP_001182461.1:p.Ser2266Asn
NM_003127.3:c.6857G>A	NP_003118.2:p.Ser2286Asn
XM_006717245.1:c.6971G>A	XP_006717308.1:p.Ser2324Asn
XM_006717246.1:c.6956G>A	XP_006717309.1:p.Ser2319Asn
XM_006717247.1:c.6911G>A	XP_006717310.1:p.Ser2304Asn
XM_006717248.1:c.6908G>A	XP_006717311.1:p.Ser2303Asn
XM_006717249.1:c.6893G>A	XP_006717312.1:p.Ser2298Asn
XM_006717250.1:c.6890G>A	XP_006717313.1:p.Ser2297Asn
XM_006717251.1:c.6875G>A	XP_006717314.1:p.Ser2292Asn
XM_006717252.1:c.6848G>A	XP_006717315.1:p.Ser2283Asn
XM_006717253.1:c.6833G>A	XP_006717316.1:p.Ser2278Asn
XM_006717254.1:c.6935G>A	XP_006717317.1:p.Ser2312Asn
NM_001363759.1:c.6935G>A	NP_001350688.1:p.Ser2312Asn
NM_001363765.1:c.6812G>A	NP_001350694.1:p.Ser2271Asn
XM_006717247.2:c.6911G>A	XP_006717310.1:p.Ser2304Asn
XM_006717248.2:c.6908G>A	XP_006717311.1:p.Ser2303Asn
XM_006717251.2:c.6875G>A	XP_006717314.1:p.Ser2292Asn
XM_006717252.3:c.6848G>A	XP_006717315.1:p.Ser2283Asn
XM_017015059.1:c.6854G>A	XP_016870548.1:p.Ser2285Asn
XM_017015060.1:c.6830G>A	XP_016870549.1:p.Ser2277Asn
NM_001130438.3:c.6872G>A MANE Select	NP_001123910.1:p.Ser2291Asn
NM_001195532.2:c.6797G>A	NP_001182461.1:p.Ser2266Asn
NM_001363759.2:c.6935G>A	NP_001350688.1:p.Ser2312Asn
NM_001363765.2:c.6812G>A	NP_001350694.1:p.Ser2271Asn
NM_001375310.1:c.6959G>A	NP_001362239.1:p.Ser2320Asn
NM_001375311.2:c.6872G>A	NP_001362240.1:p.Ser2291Asn
NM_001375312.2:c.6908G>A	NP_001362241.2:p.Ser2303Asn
NM_001375313.1:c.6854G>A	NP_001362242.1:p.Ser2285Asn
NM_001375314.2:c.6812G>A	NP_001362243.1:p.Ser2271Asn
NM_001375318.1:c.6971G>A	NP_001362247.1:p.Ser2324Asn
NM_003127.4:c.6857G>A	NP_003118.2:p.Ser2286Asn