Canonical Allele Identifier: CA638052271

Gene: SYNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32631819C>T , CM000683.2:g.32631819C>T	GRCh38
NC_000021.8:g.34004129C>T , CM000683.1:g.34004129C>T	GRCh37
NC_000021.7:g.32926000C>T	NCBI36
NG_030017.1:g.101223G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203446.3:c.*4-18G>A MANE Select	NP_982271.3:n.*4-18G>A
ENST00000674351.1:c.*4-18G>A MANE Select	ENSP00000501530.1:n.*4-18G>A
NM_001160302.1:c.*4-18G>A	NP_001153774.1:n.*4-18G>A
NM_001160306.1:c.3775-18G>A	NP_001153778.1:n.3775-18G>A
NM_001160306.2:c.3775-18G>A	NP_001153778.1:n.3775-18G>A
NM_003895.3:c.4033-18G>A	NP_003886.3:n.4033-18G>A
NM_203446.2:c.4057-18G>A	NP_982271.2:n.4057-18G>A
ENST00000357345.7:c.*4-18G>A	ENSP00000349903.3:n.*4-18G>A
ENST00000382491.7:c.*4-18G>A	ENSP00000371931.4:n.*4-18G>A
ENST00000382499.6:c.4057-18G>A	ENSP00000371939.2:n.4057-18G>A
ENST00000382499.7:c.4057-18G>A	ENSP00000371939.2:n.4057-18G>A
ENST00000418301.3:c.399-18G>A
ENST00000433931.6:c.4033-18G>A	ENSP00000409667.2:n.4033-18G>A
ENST00000433931.7:c.4033-18G>A	ENSP00000409667.2:n.4033-18G>A
ENST00000438952.5:c.566-18G>A
ENST00000630077.2:c.3775-18G>A	ENSP00000487560.1:n.3775-18G>A
ENST00000630077.3:c.3775-18G>A	ENSP00000487560.1:n.3775-18G>A
ENST00000674204.1:c.*4-18G>A	ENSP00000501504.1:n.*4-18G>A
ENST00000674308.1:c.3916-18G>A	ENSP00000501426.1:n.3916-18G>A
XM_017028494.1:c.3868-18G>A	XP_016883983.1:n.3868-18G>A
XM_017028495.2:c.4018-18G>A	XP_016883984.1:n.4018-18G>A
XM_017028496.1:c.3829-18G>A	XP_016883985.1:n.3829-18G>A
XM_017028497.2:c.3985-18G>A	XP_016883986.1:n.3985-18G>A
XM_017028498.1:c.3790-18G>A	XP_016883987.1:n.3790-18G>A
XM_017028499.2:c.3892-18G>A	XP_016883988.1:n.3892-18G>A
XM_017028500.1:c.*4-18G>A	XP_016883989.1:n.*4-18G>A
XM_017028501.1:c.*4-18G>A	XP_016883990.1:n.*4-18G>A
XM_017028502.1:c.*4-18G>A	XP_016883991.1:n.*4-18G>A
XM_017028503.1:c.*4-18G>A	XP_016883992.1:n.*4-18G>A
XM_017028504.1:c.*4-18G>A	XP_016883993.1:n.*4-18G>A
XM_017028505.2:c.*4-18G>A	XP_016883994.1:n.*4-18G>A