Canonical Allele Identifier: CA366088430

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443582G>C (hg19) ; chr6:g.152122447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122447G>C , CM000668.2:g.152122447G>C	GRCh38
NC_000006.11:g.152443582G>C , CM000668.1:g.152443582G>C	GRCh37
NC_000006.10:g.152485275G>C	NCBI36
NG_012855.1:g.519953C>G
NG_008493.2:g.470757G>C
NG_012855.2:g.519953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2917C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro973Ala
ENST00000367255.10:c.26383C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8795Ala
ENST00000423061.6:c.26239C>G (SYNE1)	ENSP00000396024.1:p.Pro8747Ala
ENST00000672154.1:c.1726C>G (SYNE1)
ENST00000672169.1:c.2101C>G (SYNE1)
ENST00000673173.1:c.1968C>G (SYNE1)
ENST00000673451.1:c.2233C>G (SYNE1)	ENSP00000500189.1:n.2233C>G
ENST00000341594.9:c.25168C>G (SYNE1)	ENSP00000341887.6:p.Pro8390Ala
ENST00000347037.9:n.3131C>G (SYNE1)
ENST00000354674.4:c.2917C>G (SYNE1)	ENSP00000346701.4:p.Pro973Ala
ENST00000367251.7:c.5159C>G (SYNE1)	ENSP00000356220.3:n.5159C>G
ENST00000367255.9:c.26383C>G (SYNE1)	ENSP00000356224.5:p.Pro8795Ala
ENST00000367256.9:n.10075C>G (SYNE1)
ENST00000367257.8:c.4262C>G (SYNE1)	ENSP00000356226.4:n.4262C>G
ENST00000409694.6:n.9967C>G (SYNE1)
ENST00000423061.5:c.26239C>G (SYNE1)	ENSP00000396024.1:p.Pro8747Ala
ENST00000427531.6:c.851-2819G>C (ESR1)	ENSP00000394721.2:n.851-2819G>C
ENST00000460912.6:n.2997C>G (SYNE1)
ENST00000478916.5:n.7020C>G (SYNE1)
ENST00000539504.5:c.2848C>G (SYNE1)	ENSP00000441052.1:p.Pro950Ala
NM_033071.3:c.26239C>G (SYNE1)	NP_149062.1:p.Pro8747Ala
NM_182961.3:c.26383C>G (SYNE1)	NP_892006.3:p.Pro8795Ala
XM_006715407.1:c.26530C>G (SYNE1)	XP_006715470.1:p.Pro8844Ala
XM_006715408.1:c.26518C>G (SYNE1)	XP_006715471.1:p.Pro8840Ala
XM_006715409.1:c.26509C>G (SYNE1)	XP_006715472.1:p.Pro8837Ala
XM_006715410.1:c.26488C>G (SYNE1)	XP_006715473.1:p.Pro8830Ala
XM_006715411.1:c.26479C>G (SYNE1)	XP_006715474.1:p.Pro8827Ala
XM_006715412.1:c.26473C>G (SYNE1)	XP_006715475.1:p.Pro8825Ala
XM_006715413.1:c.26461C>G (SYNE1)	XP_006715476.1:p.Pro8821Ala
XM_006715414.1:c.26458C>G (SYNE1)	XP_006715477.1:p.Pro8820Ala
XM_006715415.1:c.26419C>G (SYNE1)	XP_006715478.1:p.Pro8807Ala
XM_006715416.1:c.26404C>G (SYNE1)	XP_006715479.1:p.Pro8802Ala
XM_006715417.1:c.26389C>G (SYNE1)	XP_006715480.1:p.Pro8797Ala
XM_006715420.1:c.26377C>G (SYNE1)	XP_006715483.1:p.Pro8793Ala
XM_006715421.1:c.26374C>G (SYNE1)	XP_006715484.1:p.Pro8792Ala
XM_006715422.1:c.26371C>G (SYNE1)	XP_006715485.1:p.Pro8791Ala
XM_006715423.1:c.*194C>G (SYNE1)	XP_006715486.1:n.*194C>G
XM_006715424.1:c.*194C>G (SYNE1)	XP_006715487.1:n.*194C>G
XM_006715425.1:c.*194C>G (SYNE1)	XP_006715488.1:n.*194C>G
XM_011535641.1:c.26527C>G (SYNE1)	XP_011533943.1:p.Pro8843Ala
XM_011535642.1:c.26515C>G (SYNE1)	XP_011533944.1:p.Pro8839Ala
XM_011535643.1:c.26365C>G (SYNE1)	XP_011533945.1:p.Pro8789Ala
XM_011535644.1:c.24805C>G (SYNE1)	XP_011533946.1:p.Pro8269Ala
XM_011535645.1:c.24298C>G (SYNE1)	XP_011533947.1:p.Pro8100Ala
XM_011535647.1:c.19765C>G (SYNE1)	XP_011533949.1:p.Pro6589Ala
NM_001328100.1:c.851-2819G>C (ESR1)	NP_001315029.1:n.851-2819G>C
NM_001347701.1:c.*194C>G (SYNE1)	NP_001334630.1:n.*194C>G
NM_001347702.1:c.2917C>G (SYNE1)	NP_001334631.1:p.Pro973Ala
XM_006715408.2:c.26518C>G (SYNE1)	XP_006715471.1:p.Pro8840Ala
XM_006715410.2:c.26488C>G (SYNE1)	XP_006715473.1:p.Pro8830Ala
XM_006715412.2:c.26473C>G (SYNE1)	XP_006715475.1:p.Pro8825Ala
XM_006715413.2:c.26461C>G (SYNE1)	XP_006715476.1:p.Pro8821Ala
XM_006715415.2:c.26419C>G (SYNE1)	XP_006715478.1:p.Pro8807Ala
XM_006715416.2:c.26404C>G (SYNE1)	XP_006715479.1:p.Pro8802Ala
XM_006715417.2:c.26389C>G (SYNE1)	XP_006715480.1:p.Pro8797Ala
XM_006715420.2:c.26377C>G (SYNE1)	XP_006715483.1:p.Pro8793Ala
XM_006715421.2:c.26374C>G (SYNE1)	XP_006715484.1:p.Pro8792Ala
XM_006715423.2:c.*194C>G (SYNE1)	XP_006715486.1:n.*194C>G
XM_006715424.2:c.*194C>G (SYNE1)	XP_006715487.1:n.*194C>G
XM_006715425.2:c.*194C>G (SYNE1)	XP_006715488.1:n.*194C>G
XM_011535641.2:c.26527C>G (SYNE1)	XP_011533943.1:p.Pro8843Ala
XM_011535642.2:c.26515C>G (SYNE1)	XP_011533944.1:p.Pro8839Ala
XM_011535645.2:c.24298C>G (SYNE1)	XP_011533947.1:p.Pro8100Ala
XM_017010608.1:c.26530C>G (SYNE1)	XP_016866097.1:p.Pro8844Ala
XM_017010609.1:c.26530C>G (SYNE1)	XP_016866098.1:p.Pro8844Ala
XM_017010610.1:c.26509C>G (SYNE1)	XP_016866099.1:p.Pro8837Ala
XM_017010611.2:c.26503C>G (SYNE1)	XP_016866100.1:p.Pro8835Ala
XM_017010612.1:c.26452C>G (SYNE1)	XP_016866101.1:p.Pro8818Ala
XM_017010613.1:c.26416C>G (SYNE1)	XP_016866102.1:p.Pro8806Ala
XM_017010614.1:c.26374C>G (SYNE1)	XP_016866103.1:p.Pro8792Ala
XM_017010615.1:c.26263C>G (SYNE1)	XP_016866104.1:p.Pro8755Ala
XM_017010616.1:c.*194C>G (SYNE1)	XP_016866105.1:n.*194C>G
XM_017010617.1:c.*194C>G (SYNE1)	XP_016866106.1:n.*194C>G
XM_017010618.1:c.*194C>G (SYNE1)	XP_016866107.1:n.*194C>G
XM_017010619.1:c.24805C>G (SYNE1)	XP_016866108.1:p.Pro8269Ala
NM_182961.4:c.26383C>G (SYNE1) MANE Select	NP_892006.3:p.Pro8795Ala
NM_001328100.2:c.851-2819G>C (ESR1)	NP_001315029.1:n.851-2819G>C
NM_001347701.2:c.*194C>G (SYNE1)	NP_001334630.1:n.*194C>G
NM_001347702.2:c.2917C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro973Ala
NM_033071.5:c.26239C>G (SYNE1)	NP_149062.2:p.Pro8747Ala