Canonical Allele Identifier: CA360807515

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726426C>T (hg19) ; chr5:g.132390734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390734C>T , CM000667.2:g.132390734C>T	GRCh38
NC_000005.9:g.131726426C>T , CM000667.1:g.131726426C>T	GRCh37
NC_000005.8:g.131754325C>T	NCBI36
NG_008982.1:g.26026C>T
NG_008982.2:g.26031C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.938C>T	ENSP00000388838.2:p.Pro313Leu
ENST00000435065.7:c.1169C>T	ENSP00000402760.2:p.Pro390Leu
ENST00000448810.6:c.1053-42C>T	ENSP00000401860.2:n.1053-42C>T
ENST00000685543.1:n.1238C>T
ENST00000686757.1:c.*261C>T	ENSP00000510721.1:n.*261C>T
ENST00000687740.1:n.3782C>T
ENST00000688151.1:n.2407C>T
ENST00000689271.1:c.944C>T	ENSP00000510797.1:p.Pro315Leu
ENST00000690900.1:c.*261C>T	ENSP00000510703.1:n.*261C>T
ENST00000692212.1:n.2709C>T
ENST00000692355.1:c.350C>T
ENST00000692413.1:c.1079C>T	ENSP00000509374.1:p.Pro360Leu
ENST00000692825.1:c.1165C>T	ENSP00000509447.1:n.1165C>T
ENST00000693308.1:c.1145C>T	ENSP00000509770.1:p.Pro382Leu
ENST00000693763.1:n.2257C>T
ENST00000245407.8:c.1097C>T MANE Select	ENSP00000245407.3:p.Pro366Leu
ENST00000245407.7:c.1097C>T	ENSP00000245407.3:p.Pro366Leu
ENST00000435065.6:c.1169C>T	ENSP00000402760.2:p.Pro390Leu
ENST00000447841.5:c.112-1699C>T
ENST00000448810.5:c.401-42C>T
ENST00000461013.5:n.8519C>T
ENST00000475308.1:n.1775C>T
ENST00000479605.5:n.200C>T
NM_001308122.1:c.1169C>T	NP_001295051.1:p.Pro390Leu
NM_003060.3:c.1097C>T	NP_003051.1:p.Pro366Leu
XM_011543590.1:c.479C>T	XP_011541892.1:p.Pro160Leu
XR_427718.1:n.1457C>T
XR_948290.1:n.1394-1699C>T
XR_948291.1:n.1451C>T
XM_011543590.2:c.479C>T	XP_011541892.1:p.Pro160Leu
XM_017009778.2:c.569C>T	XP_016865267.1:p.Pro190Leu
XR_001742215.1:n.1394-42C>T
XR_001742216.1:n.1413-42C>T
XR_427718.2:n.1457C>T
XR_948290.2:n.1394-1699C>T
XR_948291.2:n.1451C>T
NM_003060.4:c.1097C>T MANE Select	NP_003051.1:p.Pro366Leu
NM_001308122.2:c.1169C>T	NP_001295051.1:p.Pro390Leu