Canonical Allele Identifier: CA217207548

Gene: SYT9

Linked Data

• dbSNP Id: rs1001886199
• gnomAD v2: 11-7367136-G-C
• gnomAD v3: 11-7345905-G-C
• gnomAD v4: 11-7345905-G-C
• MyVariant Identifiers: chr11:g.7367136G>C (hg19) ; chr11:g.7345905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.7345905G>C , CM000673.2:g.7345905G>C	GRCh38
NC_000011.9:g.7367136G>C , CM000673.1:g.7367136G>C	GRCh37
NC_000011.8:g.7323712G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318881.11:c.1044+31964G>C MANE Select	ENSP00000324419.6:n.1044+31964G>C
ENST00000318881.10:c.1044+31964G>C	ENSP00000324419.6:n.1044+31964G>C
ENST00000524820.6:c.*141+31568G>C	ENSP00000432141.2:n.*141+31568G>C
ENST00000532592.1:c.497+42515G>C	ENSP00000434558.1:n.497+42515G>C
NM_175733.3:c.1044+31964G>C	NP_783860.1:n.1044+31964G>C
XM_005252795.2:c.1044+31964G>C	XP_005252852.1:n.1044+31964G>C
XM_011519900.1:c.1044+31964G>C	XP_011518202.1:n.1044+31964G>C
XM_011519901.1:c.1044+31964G>C	XP_011518203.1:n.1044+31964G>C
XM_011519902.1:c.948+31964G>C	XP_011518204.1:n.948+31964G>C
XM_011519903.1:c.1044+31964G>C	XP_011518205.1:n.1044+31964G>C
XM_011519904.1:c.1044+31964G>C	XP_011518206.1:n.1044+31964G>C
XM_011519905.1:c.1044+31964G>C	XP_011518207.1:n.1044+31964G>C
XM_011519900.2:c.1044+31964G>C	XP_011518202.1:n.1044+31964G>C
XM_011519901.2:c.1044+31964G>C	XP_011518203.1:n.1044+31964G>C
XM_011519902.2:c.948+31964G>C	XP_011518204.1:n.948+31964G>C
XM_011519904.2:c.1044+31964G>C	XP_011518206.1:n.1044+31964G>C
XR_001747772.1:n.1259+31964G>C
XR_001747773.1:n.1259+31964G>C
NM_175733.4:c.1044+31964G>C MANE Select	NP_783860.1:n.1044+31964G>C