Canonical Allele Identifier: CA319422448

Gene: SYNJ1

Linked Data

• ClinVar Variation Id: 1130551
• ClinVar RCV Id: RCV001464118
• dbSNP Id: rs774777679
• gnomAD v2: 21-34015777-G-A
• gnomAD v3: 21-32643467-G-A
• gnomAD v4: 21-32643467-G-A
• MyVariant Identifiers: chr21:g.34015777G>A (hg19) ; chr21:g.34015777_34015778delinsAA (hg19) ; chr21:g.32643467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32643467G>A , CM000683.2:g.32643467G>A	GRCh38
NC_000021.8:g.34015777G>A , CM000683.1:g.34015777G>A	GRCh37
NC_000021.7:g.32937648G>A	NCBI36
NG_030017.1:g.89575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.3548-10C>T	ENSP00000371939.2:n.3548-10C>T
ENST00000433931.7:c.3548-10C>T	ENSP00000409667.2:n.3548-10C>T
ENST00000630077.3:c.3377-1501C>T	ENSP00000487560.1:n.3377-1501C>T
ENST00000674204.1:c.3431-10C>T	ENSP00000501504.1:n.3431-10C>T
ENST00000674308.1:c.3431-10C>T	ENSP00000501426.1:n.3431-10C>T
ENST00000674351.1:c.3431-10C>T MANE Select	ENSP00000501530.1:n.3431-10C>T
ENST00000357345.7:c.3431-1334C>T	ENSP00000349903.3:n.3431-1334C>T
ENST00000382491.7:c.3377-1501C>T	ENSP00000371931.4:n.3377-1501C>T
ENST00000382499.6:c.3548-10C>T	ENSP00000371939.2:n.3548-10C>T
ENST00000433931.6:c.3548-10C>T	ENSP00000409667.2:n.3548-10C>T
ENST00000438952.5:c.105-1334C>T
ENST00000630077.2:c.3377-1501C>T	ENSP00000487560.1:n.3377-1501C>T
NM_001160302.1:c.3431-1334C>T	NP_001153774.1:n.3431-1334C>T
NM_001160306.1:c.3377-1501C>T	NP_001153778.1:n.3377-1501C>T
NM_003895.3:c.3548-10C>T	NP_003886.3:n.3548-10C>T
NM_203446.2:c.3548-10C>T	NP_982271.2:n.3548-10C>T
XM_017028494.1:c.3431-1334C>T	XP_016883983.1:n.3431-1334C>T
XM_017028495.2:c.3533-10C>T	XP_016883984.1:n.3533-10C>T
XM_017028496.1:c.3392-1334C>T	XP_016883985.1:n.3392-1334C>T
XM_017028497.2:c.3548-1334C>T	XP_016883986.1:n.3548-1334C>T
XM_017028498.1:c.3392-1501C>T	XP_016883987.1:n.3392-1501C>T
XM_017028499.2:c.3494-1501C>T	XP_016883988.1:n.3494-1501C>T
XM_017028500.1:c.3431-10C>T	XP_016883989.1:n.3431-10C>T
XM_017028501.1:c.3431-10C>T	XP_016883990.1:n.3431-10C>T
XM_017028502.1:c.3431-1334C>T	XP_016883991.1:n.3431-1334C>T
XM_017028503.1:c.3392-1334C>T	XP_016883992.1:n.3392-1334C>T
XM_017028504.1:c.3392-1501C>T	XP_016883993.1:n.3392-1501C>T
XM_017028505.2:c.3494-1501C>T	XP_016883994.1:n.3494-1501C>T
NM_001160306.2:c.3377-1501C>T	NP_001153778.1:n.3377-1501C>T
NM_203446.3:c.3431-10C>T MANE Select	NP_982271.3:n.3431-10C>T