Canonical Allele Identifier: CA293760

Gene: SPTAN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632800G>A , CM000671.2:g.128632800G>A	GRCh38
NC_000009.11:g.131395079G>A , CM000671.1:g.131395079G>A	GRCh37
NC_000009.10:g.130434900G>A	NCBI36
NG_027748.1:g.85243G>A
NG_034056.1:g.29051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.7197-8G>A	ENSP00000486547.2:n.7197-8G>A
ENST00000630866.2:c.7224-8G>A	ENSP00000487444.1:n.7224-8G>A
ENST00000704202.1:c.7248-8G>A	ENSP00000515764.1:n.7248-8G>A
ENST00000704203.1:c.7197-8G>A	ENSP00000515765.1:n.7197-8G>A
ENST00000704204.1:c.6687-8G>A	ENSP00000515766.1:n.6687-8G>A
ENST00000704206.1:c.4766-8G>A
ENST00000704207.1:c.3103-8G>A
ENST00000706487.1:c.7161-8G>A	ENSP00000516412.1:n.7161-8G>A
ENST00000372739.7:c.7161-8G>A MANE Select	ENSP00000361824.4:n.7161-8G>A
ENST00000636010.1:n.885-8G>A
ENST00000358161.9:c.7086-8G>A	ENSP00000350882.6:n.7086-8G>A
ENST00000372731.8:c.7146-8G>A	ENSP00000361816.4:n.7146-8G>A
ENST00000372739.5:c.7161-8G>A	ENSP00000361824.3:n.7161-8G>A
ENST00000625980.2:n.1115-8G>A
ENST00000630147.1:n.176G>A
ENST00000630763.1:n.918-8G>A
ENST00000630804.2:c.7101-8G>A	ENSP00000486308.1:n.7101-8G>A
ENST00000630866.1:c.7224-8G>A	ENSP00000487444.1:n.7224-8G>A
ENST00000630981.1:c.34-8G>A
NM_001130438.2:c.7161-8G>A	NP_001123910.1:n.7161-8G>A
NM_001195532.1:c.7086-8G>A	NP_001182461.1:n.7086-8G>A
NM_003127.3:c.7146-8G>A	NP_003118.2:n.7146-8G>A
XM_006717245.1:c.7260-8G>A	XP_006717308.1:n.7260-8G>A
XM_006717246.1:c.7245-8G>A	XP_006717309.1:n.7245-8G>A
XM_006717247.1:c.7200-8G>A	XP_006717310.1:n.7200-8G>A
XM_006717248.1:c.7197-8G>A	XP_006717311.1:n.7197-8G>A
XM_006717249.1:c.7182-8G>A	XP_006717312.1:n.7182-8G>A
XM_006717250.1:c.7179-8G>A	XP_006717313.1:n.7179-8G>A
XM_006717251.1:c.7164-8G>A	XP_006717314.1:n.7164-8G>A
XM_006717252.1:c.7137-8G>A	XP_006717315.1:n.7137-8G>A
XM_006717253.1:c.7122-8G>A	XP_006717316.1:n.7122-8G>A
XM_006717254.1:c.7224-8G>A	XP_006717317.1:n.7224-8G>A
NM_001363759.1:c.7224-8G>A	NP_001350688.1:n.7224-8G>A
NM_001363765.1:c.7101-8G>A	NP_001350694.1:n.7101-8G>A
XM_006717247.2:c.7200-8G>A	XP_006717310.1:n.7200-8G>A
XM_006717248.2:c.7197-8G>A	XP_006717311.1:n.7197-8G>A
XM_006717251.2:c.7164-8G>A	XP_006717314.1:n.7164-8G>A
XM_006717252.3:c.7137-8G>A	XP_006717315.1:n.7137-8G>A
XM_017015059.1:c.7143-8G>A	XP_016870548.1:n.7143-8G>A
XM_017015060.1:c.7119-8G>A	XP_016870549.1:n.7119-8G>A
NM_001130438.3:c.7161-8G>A MANE Select	NP_001123910.1:n.7161-8G>A
NM_001195532.2:c.7086-8G>A	NP_001182461.1:n.7086-8G>A
NM_001363759.2:c.7224-8G>A	NP_001350688.1:n.7224-8G>A
NM_001363765.2:c.7101-8G>A	NP_001350694.1:n.7101-8G>A
NM_001375310.1:c.7248-8G>A	NP_001362239.1:n.7248-8G>A
NM_001375311.2:c.7161-8G>A	NP_001362240.1:n.7161-8G>A
NM_001375312.2:c.7197-8G>A	NP_001362241.2:n.7197-8G>A
NM_001375313.1:c.7143-8G>A	NP_001362242.1:n.7143-8G>A
NM_001375314.2:c.7101-8G>A	NP_001362243.1:n.7101-8G>A
NM_001375318.1:c.7260-8G>A	NP_001362247.1:n.7260-8G>A
NM_003127.4:c.7146-8G>A	NP_003118.2:n.7146-8G>A