Canonical Allele Identifier: CA645564101

Gene: SLC22A1

Linked Data

• COSMIC: COSM4564515

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139830_160139831delinsAA , CM000668.2:g.160139830_160139831delinsAA	GRCh38
NC_000006.11:g.160560862_160560863delinsAA , CM000668.1:g.160560862_160560863delinsAA	GRCh37
NC_000006.10:g.160480852_160480853delinsAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1239_1240delinsAA MANE Select	ENSP00000355930.4:p.Gly414Arg
ENST00000324965.8:c.1239_1240delinsAA	ENSP00000318103.4:p.Gly414Arg
ENST00000366963.8:c.1239_1240delinsAA	ENSP00000355930.4:p.Gly414Arg
ENST00000457470.6:c.1239_1240delinsAA	ENSP00000409557.2:p.Gly414Arg
ENST00000460902.2:c.1061+3180_1061+3181delinsAA	ENSP00000439274.1:n.1061+3180_1061+3181delinsAA
ENST00000539263.5:c.*712_*713delinsAA	ENSP00000443245.1:n.*712_*713delinsAA
NM_003057.2:c.1239_1240delinsAA	NP_003048.1:p.Gly414Arg
NM_153187.1:c.1239_1240delinsAA	NP_694857.1:p.Gly414Arg
XM_005267102.3:c.1239_1240delinsAA	XP_005267159.1:p.Gly414Arg
XM_005267103.1:c.1239_1240delinsAA	XP_005267160.1:p.Gly414Arg
XM_005267104.3:c.663_664delinsAA	XP_005267161.1:p.Gly222Arg
XM_005267105.3:c.663_664delinsAA	XP_005267162.1:p.Gly222Arg
XM_006715552.1:c.1239_1240delinsAA	XP_006715615.1:p.Gly414Arg
XM_011536074.1:c.663_664delinsAA	XP_011534376.1:p.Gly222Arg
XM_005267102.5:c.1239_1240delinsAA	XP_005267159.1:p.Gly414Arg
XM_005267103.2:c.1239_1240delinsAA	XP_005267160.1:p.Gly414Arg
XM_005267104.5:c.663_664delinsAA	XP_005267161.1:p.Gly222Arg
XM_005267105.5:c.663_664delinsAA	XP_005267162.1:p.Gly222Arg
XM_006715552.2:c.1239_1240delinsAA	XP_006715615.1:p.Gly414Arg
XM_011536074.3:c.663_664delinsAA	XP_011534376.1:p.Gly222Arg
NM_003057.3:c.1239_1240delinsAA MANE Select	NP_003048.1:p.Gly414Arg
NM_153187.2:c.1239_1240delinsAA	NP_694857.1:p.Gly414Arg