Canonical Allele Identifier: CA365948579

Gene: STX11

Linked Data

• ClinVar Variation Id: 1903679
• ClinVar RCV Id: RCV002573086
• gnomAD v4: 6-144186749-T-C
• MyVariant Identifiers: chr6:g.144507886T>C (hg19) ; chr6:g.144186749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144186749T>C , CM000668.2:g.144186749T>C	GRCh38
NC_000006.11:g.144507886T>C , CM000668.1:g.144507886T>C	GRCh37
NC_000006.10:g.144549579T>C	NCBI36
NG_007613.1:g.41233T>C , LRG_113:g.41233T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698355.1:c.122T>C	ENSP00000513678.1:p.Leu41Pro
ENST00000698356.1:c.122T>C	ENSP00000513679.1:p.Leu41Pro
ENST00000698357.1:c.122T>C	ENSP00000513680.1:p.Leu41Pro
ENST00000367568.5:c.122T>C MANE Select	ENSP00000356540.4:p.Leu41Pro
ENST00000367568.4:c.122T>C	ENSP00000356540.4:p.Leu41Pro
NM_003764.3:c.122T>C , LRG_113t1:c.122T>C	NP_003755.2:p.Leu41Pro
XM_011536213.1:c.200T>C	XP_011534515.1:p.Leu67Pro
XM_011536214.1:c.122T>C	XP_011534516.1:p.Leu41Pro
XM_011536215.1:c.122T>C	XP_011534517.1:p.Leu41Pro
XM_011536216.1:c.122T>C	XP_011534518.1:p.Leu41Pro
XM_011536217.1:c.122T>C	XP_011534519.1:p.Leu41Pro
XM_011536218.1:c.122T>C	XP_011534520.1:p.Leu41Pro
XM_011536213.2:c.200T>C	XP_011534515.1:p.Leu67Pro
XM_011536214.2:c.122T>C	XP_011534516.1:p.Leu41Pro
XM_011536217.2:c.122T>C	XP_011534519.1:p.Leu41Pro
XM_011536218.2:c.122T>C	XP_011534520.1:p.Leu41Pro
XM_017011400.1:c.122T>C	XP_016866889.1:p.Leu41Pro
NM_003764.4:c.122T>C MANE Select	NP_003755.2:p.Leu41Pro