Canonical Allele Identifier: CA597408623

Gene: SYT9

Linked Data

• dbSNP Id: rs1249629190
• gnomAD v2: 11-7367189-T-C
• gnomAD v3: 11-7345958-T-C
• gnomAD v4: 11-7345958-T-C
• MyVariant Identifiers: chr11:g.7367189T>C (hg19) ; chr11:g.7345958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.7345958T>C , CM000673.2:g.7345958T>C	GRCh38
NC_000011.9:g.7367189T>C , CM000673.1:g.7367189T>C	GRCh37
NC_000011.8:g.7323765T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318881.11:c.1044+32017T>C MANE Select	ENSP00000324419.6:n.1044+32017T>C
ENST00000318881.10:c.1044+32017T>C	ENSP00000324419.6:n.1044+32017T>C
ENST00000524820.6:c.*141+31621T>C	ENSP00000432141.2:n.*141+31621T>C
ENST00000532592.1:c.497+42568T>C	ENSP00000434558.1:n.497+42568T>C
NM_175733.3:c.1044+32017T>C	NP_783860.1:n.1044+32017T>C
XM_005252795.2:c.1044+32017T>C	XP_005252852.1:n.1044+32017T>C
XM_011519900.1:c.1044+32017T>C	XP_011518202.1:n.1044+32017T>C
XM_011519901.1:c.1044+32017T>C	XP_011518203.1:n.1044+32017T>C
XM_011519902.1:c.948+32017T>C	XP_011518204.1:n.948+32017T>C
XM_011519903.1:c.1044+32017T>C	XP_011518205.1:n.1044+32017T>C
XM_011519904.1:c.1044+32017T>C	XP_011518206.1:n.1044+32017T>C
XM_011519905.1:c.1044+32017T>C	XP_011518207.1:n.1044+32017T>C
XM_011519900.2:c.1044+32017T>C	XP_011518202.1:n.1044+32017T>C
XM_011519901.2:c.1044+32017T>C	XP_011518203.1:n.1044+32017T>C
XM_011519902.2:c.948+32017T>C	XP_011518204.1:n.948+32017T>C
XM_011519904.2:c.1044+32017T>C	XP_011518206.1:n.1044+32017T>C
XR_001747772.1:n.1259+32017T>C
XR_001747773.1:n.1259+32017T>C
NM_175733.4:c.1044+32017T>C MANE Select	NP_783860.1:n.1044+32017T>C