Canonical Allele Identifier: CA4053140
Community Standard Title: NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152149519G>A , CM000668.2:g.152149519G>A GRCh38
NC_000006.11:g.152470654G>A , CM000668.1:g.152470654G>A GRCh37
NC_000006.10:g.152512347G>A NCBI36
NG_012855.1:g.492881C>T
NG_012855.2:g.492881C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.24600C>T MANE Select NP_892006.3:p.Phe8200=
ENST00000367255.10:c.24600C>T MANE Select ENSP00000356224.5:p.Phe8200=
NM_001347702.2:c.1065C>T MANE Plus Clinical NP_001334631.1:p.Phe355=
ENST00000354674.5:c.1065C>T MANE Plus Clinical ENSP00000346701.4:p.Phe355=
NM_001347701.1:c.1206C>T NP_001334630.1:p.Phe402=
NM_001347701.2:c.1206C>T NP_001334630.1:p.Phe402=
NM_001347702.1:c.1065C>T NP_001334631.1:p.Phe355=
NM_033071.3:c.24387C>T NP_149062.1:p.Phe8129=
NM_033071.5:c.24387C>T NP_149062.2:p.Phe8129=
NM_182961.3:c.24600C>T NP_892006.3:p.Phe8200=
ENST00000341594.9:c.23385C>T ENSP00000341887.6:p.Phe7795=
ENST00000347037.9:n.1279C>T
ENST00000354674.4:c.1065C>T ENSP00000346701.4:p.Phe355=
ENST00000367251.7:c.3366C>T ENSP00000356220.3:p.Phe1122=
ENST00000367255.9:c.24600C>T ENSP00000356224.5:p.Phe8200=
ENST00000367256.9:n.8292C>T
ENST00000367257.8:c.2538C>T ENSP00000356226.4:p.Phe846=
ENST00000409694.6:n.8184C>T
ENST00000423061.5:c.24387C>T ENSP00000396024.1:p.Phe8129=
ENST00000423061.6:c.24387C>T ENSP00000396024.1:p.Phe8129=
ENST00000460912.6:n.1145C>T
ENST00000536990.5:n.1437C>T
ENST00000539504.5:c.1065C>T ENSP00000441052.1:p.Phe355=
ENST00000672154.1:c.116C>T
ENST00000672169.1:c.335C>T
ENST00000673173.1:c.514C>T
ENST00000673451.1:c.372C>T ENSP00000500189.1:p.Phe124=
XM_006715407.1:c.24636C>T XP_006715470.1:p.Phe8212=
XM_006715408.1:c.24624C>T XP_006715471.1:p.Phe8208=
XM_006715408.2:c.24624C>T XP_006715471.1:p.Phe8208=
XM_006715409.1:c.24615C>T XP_006715472.1:p.Phe8205=
XM_006715410.1:c.24636C>T XP_006715473.1:p.Phe8212=
XM_006715410.2:c.24636C>T XP_006715473.1:p.Phe8212=
XM_006715411.1:c.24585C>T XP_006715474.1:p.Phe8195=
XM_006715412.1:c.24621C>T XP_006715475.1:p.Phe8207=
XM_006715412.2:c.24621C>T XP_006715475.1:p.Phe8207=
XM_006715413.1:c.24636C>T XP_006715476.1:p.Phe8212=
XM_006715413.2:c.24636C>T XP_006715476.1:p.Phe8212=
XM_006715414.1:c.24564C>T XP_006715477.1:p.Phe8188=
XM_006715415.1:c.24636C>T XP_006715478.1:p.Phe8212=
XM_006715415.2:c.24636C>T XP_006715478.1:p.Phe8212=
XM_006715416.1:c.24621C>T XP_006715479.1:p.Phe8207=
XM_006715416.2:c.24621C>T XP_006715479.1:p.Phe8207=
XM_006715417.1:c.24495C>T XP_006715480.1:p.Phe8165=
XM_006715417.2:c.24495C>T XP_006715480.1:p.Phe8165=
XM_006715420.1:c.24483C>T XP_006715483.1:p.Phe8161=
XM_006715420.2:c.24483C>T XP_006715483.1:p.Phe8161=
XM_006715421.1:c.24480C>T XP_006715484.1:p.Phe8160=
XM_006715421.2:c.24480C>T XP_006715484.1:p.Phe8160=
XM_006715422.1:c.24477C>T XP_006715485.1:p.Phe8159=
XM_006715423.1:c.24636C>T XP_006715486.1:p.Phe8212=
XM_006715423.2:c.24636C>T XP_006715486.1:p.Phe8212=
XM_006715424.1:c.24636C>T XP_006715487.1:p.Phe8212=
XM_006715424.2:c.24636C>T XP_006715487.1:p.Phe8212=
XM_006715425.1:c.24636C>T XP_006715488.1:p.Phe8212=
XM_006715425.2:c.24636C>T XP_006715488.1:p.Phe8212=
XM_011535641.1:c.24633C>T XP_011533943.1:p.Phe8211=
XM_011535641.2:c.24633C>T XP_011533943.1:p.Phe8211=
XM_011535642.1:c.24621C>T XP_011533944.1:p.Phe8207=
XM_011535642.2:c.24621C>T XP_011533944.1:p.Phe8207=
XM_011535643.1:c.24471C>T XP_011533945.1:p.Phe8157=
XM_011535644.1:c.22911C>T XP_011533946.1:p.Phe7637=
XM_011535645.1:c.22404C>T XP_011533947.1:p.Phe7468=
XM_011535645.2:c.22404C>T XP_011533947.1:p.Phe7468=
XM_011535647.1:c.17871C>T XP_011533949.1:p.Phe5957=
XM_017010608.1:c.24636C>T XP_016866097.1:p.Phe8212=
XM_017010609.1:c.24636C>T XP_016866098.1:p.Phe8212=
XM_017010610.1:c.24615C>T XP_016866099.1:p.Phe8205=
XM_017010611.2:c.24609C>T XP_016866100.1:p.Phe8203=
XM_017010612.1:c.24558C>T XP_016866101.1:p.Phe8186=
XM_017010613.1:c.24633C>T XP_016866102.1:p.Phe8211=
XM_017010614.1:c.24480C>T XP_016866103.1:p.Phe8160=
XM_017010615.1:c.24480C>T XP_016866104.1:p.Phe8160=
XM_017010616.1:c.24636C>T XP_016866105.1:p.Phe8212=
XM_017010617.1:c.24633C>T XP_016866106.1:p.Phe8211=
XM_017010618.1:c.24621C>T XP_016866107.1:p.Phe8207=
XM_017010619.1:c.22911C>T XP_016866108.1:p.Phe7637=