Canonical Allele Identifier: CA410078740

Gene: SYNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32727979C>A , CM000683.2:g.32727979C>A	GRCh38
NC_000021.8:g.34100290C>A , CM000683.1:g.34100290C>A	GRCh37
NC_000021.7:g.33022161C>A	NCBI36
NG_030017.1:g.5062G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_203446.3:c.-56G>T MANE Select	NP_982271.3:n.-56G>T
ENST00000674351.1:c.-56G>T MANE Select	ENSP00000501530.1:n.-56G>T
NM_003895.3:c.62G>T	NP_003886.3:p.Cys21Phe
NM_203446.2:c.62G>T	NP_982271.2:p.Cys21Phe
ENST00000382491.7:c.-56G>T	ENSP00000371931.4:n.-56G>T
ENST00000382499.6:c.62G>T	ENSP00000371939.2:p.Cys21Phe
ENST00000382499.7:c.62G>T	ENSP00000371939.2:p.Cys21Phe
ENST00000433931.6:c.62G>T	ENSP00000409667.2:p.Cys21Phe
ENST00000433931.7:c.62G>T	ENSP00000409667.2:p.Cys21Phe
ENST00000674308.1:c.-56G>T	ENSP00000501426.1:n.-56G>T
XM_017028495.2:c.62G>T	XP_016883984.1:p.Cys21Phe
XM_017028497.2:c.62G>T	XP_016883986.1:p.Cys21Phe
XM_017028499.2:c.62G>T	XP_016883988.1:p.Cys21Phe
XM_017028505.2:c.62G>T	XP_016883994.1:p.Cys21Phe