Canonical Allele Identifier: CA349989696

Gene: SLC40A1

Linked Data

• COSMIC: COSM3990924
• MyVariant Identifiers: chr2:g.190439935G>C (hg19) ; chr2:g.189575209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575209G>C , CM000664.2:g.189575209G>C	GRCh38
NC_000002.11:g.190439935G>C , CM000664.1:g.190439935G>C	GRCh37
NC_000002.10:g.190148180G>C	NCBI36
NG_009027.1:g.10603C>G , LRG_837:g.10603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.223C>G MANE Select	ENSP00000261024.3:p.Leu75Val
ENST00000261024.6:c.223C>G	ENSP00000261024.2:p.Leu75Val
ENST00000418714.1:n.664C>G
ENST00000427241.5:c.223C>G	ENSP00000390005.1:p.Leu75Val
ENST00000479598.5:n.504C>G
NM_014585.5:c.223C>G , LRG_837t1:c.223C>G	NP_055400.1:p.Leu75Val
XM_005246505.1:c.103C>G	XP_005246562.1:p.Leu35Val
XM_005246505.2:c.103C>G	XP_005246562.1:p.Leu35Val
XM_017003938.2:c.103C>G	XP_016859427.1:p.Leu35Val
NM_014585.6:c.223C>G MANE Select	NP_055400.1:p.Leu75Val