Canonical Allele Identifier: CA375075720

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131379925G>C (hg19) ; chr9:g.128617646G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128617646G>C , CM000671.2:g.128617646G>C	GRCh38
NC_000009.11:g.131379925G>C , CM000671.1:g.131379925G>C	GRCh37
NC_000009.10:g.130419746G>C	NCBI36
NG_027748.1:g.70089G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000627441.3:c.5400G>C	ENSP00000486547.2:p.Lys1800Asn
ENST00000630866.2:c.5364G>C	ENSP00000487444.1:p.Lys1788Asn
ENST00000704202.1:c.5364G>C	ENSP00000515764.1:p.Lys1788Asn
ENST00000704203.1:c.5400G>C	ENSP00000515765.1:p.Lys1800Asn
ENST00000704204.1:c.4827G>C	ENSP00000515766.1:p.Lys1609Asn
ENST00000704206.1:c.2987G>C
ENST00000704207.1:c.974G>C
ENST00000706487.1:c.5364G>C	ENSP00000516412.1:p.Lys1788Asn
ENST00000372739.7:c.5364G>C MANE Select	ENSP00000361824.4:p.Lys1788Asn
ENST00000637434.1:n.592G>C
ENST00000358161.9:c.5289G>C	ENSP00000350882.6:p.Lys1763Asn
ENST00000372731.8:c.5349G>C	ENSP00000361816.4:p.Lys1783Asn
ENST00000372739.5:c.5364G>C	ENSP00000361824.3:p.Lys1788Asn
ENST00000630804.2:c.5304G>C	ENSP00000486308.1:p.Lys1768Asn
ENST00000630866.1:c.5364G>C	ENSP00000487444.1:p.Lys1788Asn
NM_001130438.2:c.5364G>C	NP_001123910.1:p.Lys1788Asn
NM_001195532.1:c.5289G>C	NP_001182461.1:p.Lys1763Asn
NM_003127.3:c.5349G>C	NP_003118.2:p.Lys1783Asn
XM_006717245.1:c.5400G>C	XP_006717308.1:p.Lys1800Asn
XM_006717246.1:c.5385G>C	XP_006717309.1:p.Lys1795Asn
XM_006717247.1:c.5340G>C	XP_006717310.1:p.Lys1780Asn
XM_006717248.1:c.5400G>C	XP_006717311.1:p.Lys1800Asn
XM_006717249.1:c.5385G>C	XP_006717312.1:p.Lys1795Asn
XM_006717250.1:c.5400G>C	XP_006717313.1:p.Lys1800Asn
XM_006717251.1:c.5304G>C	XP_006717314.1:p.Lys1768Asn
XM_006717252.1:c.5340G>C	XP_006717315.1:p.Lys1780Asn
XM_006717253.1:c.5325G>C	XP_006717316.1:p.Lys1775Asn
XM_006717254.1:c.5364G>C	XP_006717317.1:p.Lys1788Asn
NM_001363759.1:c.5364G>C	NP_001350688.1:p.Lys1788Asn
NM_001363765.1:c.5304G>C	NP_001350694.1:p.Lys1768Asn
XM_006717247.2:c.5340G>C	XP_006717310.1:p.Lys1780Asn
XM_006717248.2:c.5400G>C	XP_006717311.1:p.Lys1800Asn
XM_006717251.2:c.5304G>C	XP_006717314.1:p.Lys1768Asn
XM_006717252.3:c.5340G>C	XP_006717315.1:p.Lys1780Asn
XM_017015059.1:c.5364G>C	XP_016870548.1:p.Lys1788Asn
XM_017015060.1:c.5340G>C	XP_016870549.1:p.Lys1780Asn
NM_001130438.3:c.5364G>C MANE Select	NP_001123910.1:p.Lys1788Asn
NM_001195532.2:c.5289G>C	NP_001182461.1:p.Lys1763Asn
NM_001363759.2:c.5364G>C	NP_001350688.1:p.Lys1788Asn
NM_001363765.2:c.5304G>C	NP_001350694.1:p.Lys1768Asn
NM_001375310.1:c.5364G>C	NP_001362239.1:p.Lys1788Asn
NM_001375311.2:c.5364G>C	NP_001362240.1:p.Lys1788Asn
NM_001375312.2:c.5400G>C	NP_001362241.2:p.Lys1800Asn
NM_001375313.1:c.5364G>C	NP_001362242.1:p.Lys1788Asn
NM_001375314.2:c.5304G>C	NP_001362243.1:p.Lys1768Asn
NM_001375318.1:c.5400G>C	NP_001362247.1:p.Lys1800Asn
NM_003127.4:c.5349G>C	NP_003118.2:p.Lys1783Asn