Canonical Allele Identifier: CA360807821

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726573T>C (hg19) ; chr5:g.132390881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390881T>C , CM000667.2:g.132390881T>C	GRCh38
NC_000005.9:g.131726573T>C , CM000667.1:g.131726573T>C	GRCh37
NC_000005.8:g.131754472T>C	NCBI36
NG_008982.1:g.26173T>C
NG_008982.2:g.26178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1085T>C	ENSP00000388838.2:p.Leu362Pro
ENST00000435065.7:c.1316T>C	ENSP00000402760.2:p.Leu439Pro
ENST00000448810.6:c.*96T>C	ENSP00000401860.2:n.*96T>C
ENST00000685543.1:n.1385T>C
ENST00000686757.1:c.*408T>C	ENSP00000510721.1:n.*408T>C
ENST00000687740.1:n.3929T>C
ENST00000688151.1:n.2554T>C
ENST00000689271.1:c.1091T>C	ENSP00000510797.1:p.Leu364Pro
ENST00000690900.1:c.*408T>C	ENSP00000510703.1:n.*408T>C
ENST00000692212.1:n.2856T>C
ENST00000692355.1:c.497T>C
ENST00000692413.1:c.1226T>C	ENSP00000509374.1:p.Leu409Pro
ENST00000692825.1:c.1312T>C	ENSP00000509447.1:n.1312T>C
ENST00000693308.1:c.1292T>C	ENSP00000509770.1:p.Leu431Pro
ENST00000693763.1:n.2404T>C
ENST00000245407.8:c.1244T>C MANE Select	ENSP00000245407.3:p.Leu415Pro
ENST00000245407.7:c.1244T>C	ENSP00000245407.3:p.Leu415Pro
ENST00000435065.6:c.1316T>C	ENSP00000402760.2:p.Leu439Pro
ENST00000447841.5:c.112-1552T>C
ENST00000448810.5:c.506T>C
ENST00000461013.5:n.8666T>C
ENST00000475308.1:n.1922T>C
ENST00000479605.5:n.347T>C
NM_001308122.1:c.1316T>C	NP_001295051.1:p.Leu439Pro
NM_003060.3:c.1244T>C	NP_003051.1:p.Leu415Pro
XM_011543590.1:c.626T>C	XP_011541892.1:p.Leu209Pro
XR_427718.1:n.1604T>C
XR_948290.1:n.1394-1552T>C
XR_948291.1:n.1598T>C
XM_011543590.2:c.626T>C	XP_011541892.1:p.Leu209Pro
XM_017009778.2:c.716T>C	XP_016865267.1:p.Leu239Pro
XR_001742215.1:n.1499T>C
XR_001742216.1:n.1518T>C
XR_427718.2:n.1604T>C
XR_948290.2:n.1394-1552T>C
XR_948291.2:n.1598T>C
NM_003060.4:c.1244T>C MANE Select	NP_003051.1:p.Leu415Pro
NM_001308122.2:c.1316T>C	NP_001295051.1:p.Leu439Pro