Canonical Allele Identifier: CA366330655

Gene: SLC22A1

Linked Data

• MyVariant Identifiers: chr6:g.160575840G>T (hg19) ; chr6:g.160154808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154808G>T , CM000668.2:g.160154808G>T	GRCh38
NC_000006.11:g.160575840G>T , CM000668.1:g.160575840G>T	GRCh37
NC_000006.10:g.160495830G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1396G>T MANE Select	ENSP00000355930.4:p.Val466Leu
ENST00000324965.8:c.1386-1167G>T	ENSP00000318103.4:n.1386-1167G>T
ENST00000366963.8:c.1396G>T	ENSP00000355930.4:p.Val466Leu
ENST00000457470.6:c.1386-3708G>T	ENSP00000409557.2:n.1386-3708G>T
ENST00000460902.2:c.1181G>T	ENSP00000439274.1:n.1181G>T
ENST00000539263.5:c.*869G>T	ENSP00000443245.1:n.*869G>T
NM_003057.2:c.1396G>T	NP_003048.1:p.Val466Leu
NM_153187.1:c.1386-1167G>T	NP_694857.1:n.1386-1167G>T
XM_005267102.3:c.1396G>T	XP_005267159.1:p.Val466Leu
XM_005267103.1:c.1396G>T	XP_005267160.1:p.Val466Leu
XM_005267104.3:c.820G>T	XP_005267161.1:p.Val274Leu
XM_005267105.3:c.820G>T	XP_005267162.1:p.Val274Leu
XM_006715552.1:c.1386-3708G>T	XP_006715615.1:n.1386-3708G>T
XM_011536074.1:c.820G>T	XP_011534376.1:p.Val274Leu
XM_005267102.5:c.1396G>T	XP_005267159.1:p.Val466Leu
XM_005267103.2:c.1396G>T	XP_005267160.1:p.Val466Leu
XM_005267104.5:c.820G>T	XP_005267161.1:p.Val274Leu
XM_005267105.5:c.820G>T	XP_005267162.1:p.Val274Leu
XM_006715552.2:c.1386-3708G>T	XP_006715615.1:n.1386-3708G>T
XM_011536074.3:c.820G>T	XP_011534376.1:p.Val274Leu
NM_003057.3:c.1396G>T MANE Select	NP_003048.1:p.Val466Leu
NM_153187.2:c.1386-1167G>T	NP_694857.1:n.1386-1167G>T