Canonical Allele Identifier: CA350541776

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219248987C>G (hg19) ; chr2:g.218384264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384264C>G , CM000664.2:g.218384264C>G	GRCh38
NC_000002.11:g.219248987C>G , CM000664.1:g.219248987C>G	GRCh37
NC_000002.10:g.218957231C>G	NCBI36
NG_012128.1:g.7236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.172C>G MANE Select	ENSP00000233202.6:p.Leu58Val
ENST00000233202.10:c.172C>G	ENSP00000233202.6:p.Leu58Val
ENST00000354352.9:c.172C>G	ENSP00000346320.5:p.Leu58Val
ENST00000465984.5:n.332-883C>G
ENST00000468221.5:n.1652C>G
ENST00000469449.1:n.578C>G
ENST00000469799.5:n.98-883C>G
ENST00000471875.5:n.119C>G
ENST00000473367.5:c.151-55C>G	ENSP00000484905.1:n.151-55C>G
ENST00000475225.5:n.186-55C>G
ENST00000481524.5:c.8-883C>G	ENSP00000483970.1:n.8-883C>G
ENST00000483487.2:n.98C>G
ENST00000492413.5:n.254C>G
ENST00000494322.5:n.268C>G
ENST00000539932.5:c.29C>G	ENSP00000443435.2:p.Ala10Gly
NM_000578.3:c.172C>G	NP_000569.3:p.Leu58Val
XM_005246793.2:c.-30C>G	XP_005246850.1:n.-30C>G
XM_005246794.2:c.-257C>G	XP_005246851.1:n.-257C>G
XM_006712709.2:c.-257C>G	XP_006712772.1:n.-257C>G
XM_006712710.2:c.-155-883C>G	XP_006712773.1:n.-155-883C>G
XM_006712711.2:c.-174-883C>G	XP_006712774.1:n.-174-883C>G
XM_011511684.1:c.-265C>G	XP_011509986.1:n.-265C>G
XM_011511685.1:c.-265C>G	XP_011509987.1:n.-265C>G
XR_427107.1:n.335C>G
XR_427108.2:n.632C>G
XM_005246793.4:c.-30C>G	XP_005246850.1:n.-30C>G
XM_005246794.4:c.-257C>G	XP_005246851.1:n.-257C>G
XM_006712709.4:c.-257C>G	XP_006712772.1:n.-257C>G
XM_006712710.4:c.-155-883C>G	XP_006712773.1:n.-155-883C>G
XM_006712711.4:c.-174-883C>G	XP_006712774.1:n.-174-883C>G
XM_011511684.3:c.-265C>G	XP_011509986.1:n.-265C>G
XM_011511685.3:c.-265C>G	XP_011509987.1:n.-265C>G
XM_017004765.2:c.151-883C>G	XP_016860254.1:n.151-883C>G
XM_017004766.2:c.-30C>G	XP_016860255.1:n.-30C>G
XM_017004767.2:c.172C>G	XP_016860256.1:p.Leu58Val
XR_427107.3:n.321C>G
XR_427108.4:n.632C>G
NM_000578.4:c.172C>G MANE Select	NP_000569.3:p.Leu58Val