Canonical Allele Identifier: CA360805550

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722743T>C (hg19) ; chr5:g.132387051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387051T>C , CM000667.2:g.132387051T>C	GRCh38
NC_000005.9:g.131722743T>C , CM000667.1:g.131722743T>C	GRCh37
NC_000005.8:g.131750642T>C	NCBI36
NG_008982.1:g.22343T>C
NG_008982.2:g.22348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.692T>C	ENSP00000388838.2:p.Leu231Pro
ENST00000435065.7:c.923T>C	ENSP00000402760.2:p.Leu308Pro
ENST00000448810.6:c.851T>C	ENSP00000401860.2:p.Leu284Pro
ENST00000686757.1:c.*15T>C	ENSP00000510721.1:n.*15T>C
ENST00000687740.1:n.3536T>C
ENST00000688151.1:n.2161T>C
ENST00000689271.1:c.698T>C	ENSP00000510797.1:p.Leu233Pro
ENST00000690900.1:c.*15T>C	ENSP00000510703.1:n.*15T>C
ENST00000692212.1:n.795T>C
ENST00000692355.1:c.205-1870T>C
ENST00000692413.1:c.844-11T>C	ENSP00000509374.1:n.844-11T>C
ENST00000692825.1:c.919T>C	ENSP00000509447.1:n.919T>C
ENST00000693308.1:c.899T>C	ENSP00000509770.1:p.Leu300Pro
ENST00000693763.1:n.2011T>C
ENST00000245407.8:c.851T>C MANE Select	ENSP00000245407.3:p.Leu284Pro
ENST00000245407.7:c.851T>C	ENSP00000245407.3:p.Leu284Pro
ENST00000415928.5:c.620T>C	ENSP00000388838.1:p.Leu207Pro
ENST00000435065.6:c.923T>C	ENSP00000402760.2:p.Leu308Pro
ENST00000437841.6:c.*166T>C	ENSP00000400553.1:n.*166T>C
ENST00000448810.5:c.199T>C
ENST00000461013.5:n.8273T>C
NM_001308122.1:c.923T>C	NP_001295051.1:p.Leu308Pro
NM_003060.3:c.851T>C	NP_003051.1:p.Leu284Pro
XM_011543590.1:c.233T>C	XP_011541892.1:p.Leu78Pro
XR_427718.1:n.1211T>C
XR_948290.1:n.1192T>C
XR_948291.1:n.1205T>C
XM_011543590.2:c.233T>C	XP_011541892.1:p.Leu78Pro
XM_017009778.2:c.323T>C	XP_016865267.1:p.Leu108Pro
XR_001742215.1:n.1192T>C
XR_001742216.1:n.1211T>C
XR_427718.2:n.1211T>C
XR_948290.2:n.1192T>C
XR_948291.2:n.1205T>C
NM_003060.4:c.851T>C MANE Select	NP_003051.1:p.Leu284Pro
NM_001308122.2:c.923T>C	NP_001295051.1:p.Leu308Pro