Canonical Allele Identifier: CA10003638

Gene: SYNJ1

Linked Data

• dbSNP Id: rs754281862
• ExAC: 21:34029349 T / G
• gnomAD v2: 21-34029349-T-G
• gnomAD v4: 21-32657039-T-G
• MyVariant Identifiers: chr21:g.34029349T>G (hg19) ; chr21:g.32657039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32657039T>G , CM000683.2:g.32657039T>G	GRCh38
NC_000021.8:g.34029349T>G , CM000683.1:g.34029349T>G	GRCh37
NC_000021.7:g.32951220T>G	NCBI36
NG_030017.1:g.76003A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.2660A>C	ENSP00000371939.2:p.His887Pro
ENST00000433931.7:c.2660A>C	ENSP00000409667.2:p.His887Pro
ENST00000630077.3:c.2528A>C	ENSP00000487560.1:p.His843Pro
ENST00000674204.1:c.2543A>C	ENSP00000501504.1:p.His848Pro
ENST00000674308.1:c.2543A>C	ENSP00000501426.1:p.His848Pro
ENST00000674351.1:c.2543A>C MANE Select	ENSP00000501530.1:p.His848Pro
ENST00000357345.7:c.2543A>C	ENSP00000349903.3:p.His848Pro
ENST00000382491.7:c.2528A>C	ENSP00000371931.4:p.His843Pro
ENST00000382499.6:c.2660A>C	ENSP00000371939.2:p.His887Pro
ENST00000433931.6:c.2660A>C	ENSP00000409667.2:p.His887Pro
ENST00000464778.1:n.330A>C
ENST00000630077.2:c.2528A>C	ENSP00000487560.1:p.His843Pro
NM_001160302.1:c.2543A>C	NP_001153774.1:p.His848Pro
NM_001160306.1:c.2528A>C	NP_001153778.1:p.His843Pro
NM_003895.3:c.2660A>C	NP_003886.3:p.His887Pro
NM_203446.2:c.2660A>C	NP_982271.2:p.His887Pro
XM_017028494.1:c.2543A>C	XP_016883983.1:p.His848Pro
XM_017028495.2:c.2645A>C	XP_016883984.1:p.His882Pro
XM_017028496.1:c.2543A>C	XP_016883985.1:p.His848Pro
XM_017028497.2:c.2660A>C	XP_016883986.1:p.His887Pro
XM_017028498.1:c.2543A>C	XP_016883987.1:p.His848Pro
XM_017028499.2:c.2645A>C	XP_016883988.1:p.His882Pro
XM_017028500.1:c.2543A>C	XP_016883989.1:p.His848Pro
XM_017028501.1:c.2543A>C	XP_016883990.1:p.His848Pro
XM_017028502.1:c.2543A>C	XP_016883991.1:p.His848Pro
XM_017028503.1:c.2543A>C	XP_016883992.1:p.His848Pro
XM_017028504.1:c.2543A>C	XP_016883993.1:p.His848Pro
XM_017028505.2:c.2645A>C	XP_016883994.1:p.His882Pro
NM_001160306.2:c.2528A>C	NP_001153778.1:p.His843Pro
NM_203446.3:c.2543A>C MANE Select	NP_982271.3:p.His848Pro