Canonical Allele Identifier: CA4052775
Community Standard Title: NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152136621G>A , CM000668.2:g.152136621G>A GRCh38
NC_000006.11:g.152457756G>A , CM000668.1:g.152457756G>A GRCh37
NC_000006.10:g.152499449G>A NCBI36
NG_012855.1:g.505779C>T
NG_012855.2:g.505779C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.25656C>T MANE Select NP_892006.3:p.Cys8552=
ENST00000367255.10:c.25656C>T MANE Select ENSP00000356224.5:p.Cys8552=
NM_001347702.2:c.2190C>T MANE Plus Clinical NP_001334631.1:p.Cys730=
ENST00000354674.5:c.2190C>T MANE Plus Clinical ENSP00000346701.4:p.Cys730=
NM_001347701.1:c.2262C>T NP_001334630.1:p.Cys754=
NM_001347701.2:c.2262C>T NP_001334630.1:p.Cys754=
NM_001347702.1:c.2190C>T NP_001334631.1:p.Cys730=
NM_033071.3:c.25512C>T NP_149062.1:p.Cys8504=
NM_033071.5:c.25512C>T NP_149062.2:p.Cys8504=
NM_182961.3:c.25656C>T NP_892006.3:p.Cys8552=
ENST00000341594.9:c.24441C>T ENSP00000341887.6:p.Cys8147=
ENST00000347037.9:n.2404C>T
ENST00000354674.4:c.2190C>T ENSP00000346701.4:p.Cys730=
ENST00000367251.7:c.4491C>T ENSP00000356220.3:p.Cys1497=
ENST00000367255.9:c.25656C>T ENSP00000356224.5:p.Cys8552=
ENST00000367256.9:n.9348C>T
ENST00000367257.8:c.3594C>T ENSP00000356226.4:p.Cys1198=
ENST00000409694.6:n.9240C>T
ENST00000423061.5:c.25512C>T ENSP00000396024.1:p.Cys8504=
ENST00000423061.6:c.25512C>T ENSP00000396024.1:p.Cys8504=
ENST00000460912.6:n.2270C>T
ENST00000478916.5:n.4678C>T
ENST00000536990.5:n.2493C>T
ENST00000539504.5:c.2121C>T ENSP00000441052.1:p.Cys707=
ENST00000672154.1:c.1058C>T
ENST00000672169.1:c.1391C>T
ENST00000673173.1:c.1300C>T
ENST00000673451.1:c.1428C>T ENSP00000500189.1:p.Cys476=
XM_006715407.1:c.25761C>T XP_006715470.1:p.Cys8587=
XM_006715408.1:c.25749C>T XP_006715471.1:p.Cys8583=
XM_006715408.2:c.25749C>T XP_006715471.1:p.Cys8583=
XM_006715409.1:c.25740C>T XP_006715472.1:p.Cys8580=
XM_006715410.1:c.25761C>T XP_006715473.1:p.Cys8587=
XM_006715410.2:c.25761C>T XP_006715473.1:p.Cys8587=
XM_006715411.1:c.25710C>T XP_006715474.1:p.Cys8570=
XM_006715412.1:c.25746C>T XP_006715475.1:p.Cys8582=
XM_006715412.2:c.25746C>T XP_006715475.1:p.Cys8582=
XM_006715413.1:c.25692C>T XP_006715476.1:p.Cys8564=
XM_006715413.2:c.25692C>T XP_006715476.1:p.Cys8564=
XM_006715414.1:c.25689C>T XP_006715477.1:p.Cys8563=
XM_006715415.1:c.25692C>T XP_006715478.1:p.Cys8564=
XM_006715415.2:c.25692C>T XP_006715478.1:p.Cys8564=
XM_006715416.1:c.25677C>T XP_006715479.1:p.Cys8559=
XM_006715416.2:c.25677C>T XP_006715479.1:p.Cys8559=
XM_006715417.1:c.25620C>T XP_006715480.1:p.Cys8540=
XM_006715417.2:c.25620C>T XP_006715480.1:p.Cys8540=
XM_006715420.1:c.25608C>T XP_006715483.1:p.Cys8536=
XM_006715420.2:c.25608C>T XP_006715483.1:p.Cys8536=
XM_006715421.1:c.25605C>T XP_006715484.1:p.Cys8535=
XM_006715421.2:c.25605C>T XP_006715484.1:p.Cys8535=
XM_006715422.1:c.25602C>T XP_006715485.1:p.Cys8534=
XM_006715423.1:c.25761C>T XP_006715486.1:p.Cys8587=
XM_006715423.2:c.25761C>T XP_006715486.1:p.Cys8587=
XM_006715424.1:c.25761C>T XP_006715487.1:p.Cys8587=
XM_006715424.2:c.25761C>T XP_006715487.1:p.Cys8587=
XM_006715425.1:c.25692C>T XP_006715488.1:p.Cys8564=
XM_006715425.2:c.25692C>T XP_006715488.1:p.Cys8564=
XM_011535641.1:c.25758C>T XP_011533943.1:p.Cys8586=
XM_011535641.2:c.25758C>T XP_011533943.1:p.Cys8586=
XM_011535642.1:c.25746C>T XP_011533944.1:p.Cys8582=
XM_011535642.2:c.25746C>T XP_011533944.1:p.Cys8582=
XM_011535643.1:c.25596C>T XP_011533945.1:p.Cys8532=
XM_011535644.1:c.24036C>T XP_011533946.1:p.Cys8012=
XM_011535645.1:c.23529C>T XP_011533947.1:p.Cys7843=
XM_011535645.2:c.23529C>T XP_011533947.1:p.Cys7843=
XM_011535647.1:c.18996C>T XP_011533949.1:p.Cys6332=
XM_017010608.1:c.25761C>T XP_016866097.1:p.Cys8587=
XM_017010609.1:c.25761C>T XP_016866098.1:p.Cys8587=
XM_017010610.1:c.25740C>T XP_016866099.1:p.Cys8580=
XM_017010611.2:c.25734C>T XP_016866100.1:p.Cys8578=
XM_017010612.1:c.25683C>T XP_016866101.1:p.Cys8561=
XM_017010613.1:c.25689C>T XP_016866102.1:p.Cys8563=
XM_017010614.1:c.25605C>T XP_016866103.1:p.Cys8535=
XM_017010615.1:c.25536C>T XP_016866104.1:p.Cys8512=
XM_017010616.1:c.25692C>T XP_016866105.1:p.Cys8564=
XM_017010617.1:c.25689C>T XP_016866106.1:p.Cys8563=
XM_017010618.1:c.25677C>T XP_016866107.1:p.Cys8559=
XM_017010619.1:c.24036C>T XP_016866108.1:p.Cys8012=