Canonical Allele Identifier: CA346687187

Gene: SLC3A1 PREPL

Linked Data

• gnomAD v4: 2-44320435-G-T
• MyVariant Identifiers: chr2:g.44547574G>T (hg19) ; chr2:g.44320435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44320435G>T , CM000664.2:g.44320435G>T	GRCh38
NC_000002.11:g.44547574G>T , CM000664.1:g.44547574G>T	GRCh37
NC_000002.10:g.44401078G>T	NCBI36
NG_008233.1:g.49978G>T
NG_016429.1:g.46428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260649.11:c.1854G>T (SLC3A1) MANE Select	ENSP00000260649.6:p.Met618Ile
ENST00000409411.6:c.*921C>A (PREPL) MANE Select	ENSP00000387095.2:n.*921C>A
ENST00000260649.10:c.1854G>T (SLC3A1)	ENSP00000260649.6:p.Met618Ile
ENST00000409380.5:c.1020G>T (SLC3A1)	ENSP00000386709.1:p.Met340Ile
ENST00000409411.5:c.*921C>A (PREPL)	ENSP00000387095.1:n.*921C>A
ENST00000409740.3:c.747G>T (SLC3A1)	ENSP00000386677.3:p.Met249Ile
ENST00000409936.5:c.*921C>A (PREPL)	ENSP00000386543.1:n.*921C>A
ENST00000409957.5:c.*921C>A (PREPL)	ENSP00000387241.1:n.*921C>A
ENST00000425263.5:c.*921C>A (PREPL)	ENSP00000391456.1:n.*921C>A
ENST00000426481.5:c.*921C>A (PREPL)	ENSP00000409480.1:n.*921C>A
ENST00000444696.5:c.414C>A (PREPL)	ENSP00000390618.1:n.414C>A
ENST00000541738.5:c.*921C>A (PREPL)	ENSP00000439626.1:n.*921C>A
NM_000341.3:c.1854G>T (SLC3A1)	NP_000332.2:p.Met618Ile
NM_001042385.2:c.*921C>A (PREPL)	NP_001035844.1:n.*921C>A
NM_001042386.2:c.*921C>A (PREPL)	NP_001035845.1:n.*921C>A
NM_001171603.1:c.*921C>A (PREPL)	NP_001165074.1:n.*921C>A
NM_001171606.1:c.*921C>A (PREPL)	NP_001165077.1:n.*921C>A
NM_001171613.1:c.*921C>A (PREPL)	NP_001165084.1:n.*921C>A
NM_001171617.1:c.*921C>A (PREPL)	NP_001165088.1:n.*921C>A
NM_006036.4:c.*921C>A (PREPL)	NP_006027.2:n.*921C>A
XM_011533198.1:c.*921C>A (PREPL)	XP_011531500.1:n.*921C>A
XM_011533199.1:c.*921C>A (PREPL)	XP_011531501.1:n.*921C>A
XM_011533200.1:c.*921C>A (PREPL)	XP_011531502.1:n.*921C>A
XM_011533201.1:c.*994C>A (PREPL)	XP_011531503.1:n.*994C>A
XM_011533202.1:c.*921C>A (PREPL)	XP_011531504.1:n.*921C>A
XM_011533047.3:c.*2240G>T (SLC3A1)	XP_011531349.1:n.*2240G>T
XM_011533198.2:c.*921C>A (PREPL)	XP_011531500.1:n.*921C>A
XM_017005384.1:c.*921C>A (PREPL)	XP_016860873.1:n.*921C>A
XM_017005385.1:c.*921C>A (PREPL)	XP_016860874.1:n.*921C>A
NM_000341.4:c.1854G>T (SLC3A1) MANE Select	NP_000332.2:p.Met618Ile
NM_001171613.2:c.*921C>A (PREPL) MANE Select	NP_001165084.1:n.*921C>A
NM_001374275.1:c.*921C>A (PREPL)	NP_001361204.1:n.*921C>A
NM_001374276.1:c.*921C>A (PREPL)	NP_001361205.1:n.*921C>A
NM_001374277.1:c.*921C>A (PREPL)	NP_001361206.1:n.*921C>A
NM_001171606.2:c.*921C>A (PREPL)	NP_001165077.1:n.*921C>A