Canonical Allele Identifier: CA366089186

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443774G>C (hg19) ; chr6:g.152122639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122639G>C , CM000668.2:g.152122639G>C	GRCh38
NC_000006.11:g.152443774G>C , CM000668.1:g.152443774G>C	GRCh37
NC_000006.10:g.152485467G>C	NCBI36
NG_012855.1:g.519761C>G
NG_008493.2:g.470949G>C
NG_012855.2:g.519761C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2725C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro909Ala
ENST00000367255.10:c.26191C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8731Ala
ENST00000423061.6:c.26047C>G (SYNE1)	ENSP00000396024.1:p.Pro8683Ala
ENST00000672154.1:c.1534C>G (SYNE1)
ENST00000672169.1:c.1909C>G (SYNE1)
ENST00000673173.1:c.1776C>G (SYNE1)
ENST00000673451.1:c.2041C>G (SYNE1)	ENSP00000500189.1:n.2041C>G
ENST00000341594.9:c.24976C>G (SYNE1)	ENSP00000341887.6:p.Pro8326Ala
ENST00000347037.9:n.2939C>G (SYNE1)
ENST00000354674.4:c.2725C>G (SYNE1)	ENSP00000346701.4:p.Pro909Ala
ENST00000367251.7:c.4967C>G (SYNE1)	ENSP00000356220.3:n.4967C>G
ENST00000367255.9:c.26191C>G (SYNE1)	ENSP00000356224.5:p.Pro8731Ala
ENST00000367256.9:n.9883C>G (SYNE1)
ENST00000367257.8:c.4070C>G (SYNE1)	ENSP00000356226.4:n.4070C>G
ENST00000409694.6:n.9775C>G (SYNE1)
ENST00000423061.5:c.26047C>G (SYNE1)	ENSP00000396024.1:p.Pro8683Ala
ENST00000427531.6:c.851-2627G>C (ESR1)	ENSP00000394721.2:n.851-2627G>C
ENST00000460912.6:n.2805C>G (SYNE1)
ENST00000478916.5:n.6828C>G (SYNE1)
ENST00000536990.5:n.2969C>G (SYNE1)
ENST00000539504.5:c.2656C>G (SYNE1)	ENSP00000441052.1:p.Pro886Ala
NM_033071.3:c.26047C>G (SYNE1)	NP_149062.1:p.Pro8683Ala
NM_182961.3:c.26191C>G (SYNE1)	NP_892006.3:p.Pro8731Ala
XM_006715407.1:c.26338C>G (SYNE1)	XP_006715470.1:p.Pro8780Ala
XM_006715408.1:c.26326C>G (SYNE1)	XP_006715471.1:p.Pro8776Ala
XM_006715409.1:c.26317C>G (SYNE1)	XP_006715472.1:p.Pro8773Ala
XM_006715410.1:c.26296C>G (SYNE1)	XP_006715473.1:p.Pro8766Ala
XM_006715411.1:c.26287C>G (SYNE1)	XP_006715474.1:p.Pro8763Ala
XM_006715412.1:c.26281C>G (SYNE1)	XP_006715475.1:p.Pro8761Ala
XM_006715413.1:c.26269C>G (SYNE1)	XP_006715476.1:p.Pro8757Ala
XM_006715414.1:c.26266C>G (SYNE1)	XP_006715477.1:p.Pro8756Ala
XM_006715415.1:c.26227C>G (SYNE1)	XP_006715478.1:p.Pro8743Ala
XM_006715416.1:c.26212C>G (SYNE1)	XP_006715479.1:p.Pro8738Ala
XM_006715417.1:c.26197C>G (SYNE1)	XP_006715480.1:p.Pro8733Ala
XM_006715420.1:c.26185C>G (SYNE1)	XP_006715483.1:p.Pro8729Ala
XM_006715421.1:c.26182C>G (SYNE1)	XP_006715484.1:p.Pro8728Ala
XM_006715422.1:c.26179C>G (SYNE1)	XP_006715485.1:p.Pro8727Ala
XM_006715423.1:c.*2C>G (SYNE1)	XP_006715486.1:n.*2C>G
XM_006715424.1:c.*2C>G (SYNE1)	XP_006715487.1:n.*2C>G
XM_006715425.1:c.*2C>G (SYNE1)	XP_006715488.1:n.*2C>G
XM_011535641.1:c.26335C>G (SYNE1)	XP_011533943.1:p.Pro8779Ala
XM_011535642.1:c.26323C>G (SYNE1)	XP_011533944.1:p.Pro8775Ala
XM_011535643.1:c.26173C>G (SYNE1)	XP_011533945.1:p.Pro8725Ala
XM_011535644.1:c.24613C>G (SYNE1)	XP_011533946.1:p.Pro8205Ala
XM_011535645.1:c.24106C>G (SYNE1)	XP_011533947.1:p.Pro8036Ala
XM_011535647.1:c.19573C>G (SYNE1)	XP_011533949.1:p.Pro6525Ala
NM_001328100.1:c.851-2627G>C (ESR1)	NP_001315029.1:n.851-2627G>C
NM_001347701.1:c.*2C>G (SYNE1)	NP_001334630.1:n.*2C>G
NM_001347702.1:c.2725C>G (SYNE1)	NP_001334631.1:p.Pro909Ala
XM_006715408.2:c.26326C>G (SYNE1)	XP_006715471.1:p.Pro8776Ala
XM_006715410.2:c.26296C>G (SYNE1)	XP_006715473.1:p.Pro8766Ala
XM_006715412.2:c.26281C>G (SYNE1)	XP_006715475.1:p.Pro8761Ala
XM_006715413.2:c.26269C>G (SYNE1)	XP_006715476.1:p.Pro8757Ala
XM_006715415.2:c.26227C>G (SYNE1)	XP_006715478.1:p.Pro8743Ala
XM_006715416.2:c.26212C>G (SYNE1)	XP_006715479.1:p.Pro8738Ala
XM_006715417.2:c.26197C>G (SYNE1)	XP_006715480.1:p.Pro8733Ala
XM_006715420.2:c.26185C>G (SYNE1)	XP_006715483.1:p.Pro8729Ala
XM_006715421.2:c.26182C>G (SYNE1)	XP_006715484.1:p.Pro8728Ala
XM_006715423.2:c.*2C>G (SYNE1)	XP_006715486.1:n.*2C>G
XM_006715424.2:c.*2C>G (SYNE1)	XP_006715487.1:n.*2C>G
XM_006715425.2:c.*2C>G (SYNE1)	XP_006715488.1:n.*2C>G
XM_011535641.2:c.26335C>G (SYNE1)	XP_011533943.1:p.Pro8779Ala
XM_011535642.2:c.26323C>G (SYNE1)	XP_011533944.1:p.Pro8775Ala
XM_011535645.2:c.24106C>G (SYNE1)	XP_011533947.1:p.Pro8036Ala
XM_017010608.1:c.26338C>G (SYNE1)	XP_016866097.1:p.Pro8780Ala
XM_017010609.1:c.26338C>G (SYNE1)	XP_016866098.1:p.Pro8780Ala
XM_017010610.1:c.26317C>G (SYNE1)	XP_016866099.1:p.Pro8773Ala
XM_017010611.2:c.26311C>G (SYNE1)	XP_016866100.1:p.Pro8771Ala
XM_017010612.1:c.26260C>G (SYNE1)	XP_016866101.1:p.Pro8754Ala
XM_017010613.1:c.26224C>G (SYNE1)	XP_016866102.1:p.Pro8742Ala
XM_017010614.1:c.26182C>G (SYNE1)	XP_016866103.1:p.Pro8728Ala
XM_017010615.1:c.26071C>G (SYNE1)	XP_016866104.1:p.Pro8691Ala
XM_017010616.1:c.*2C>G (SYNE1)	XP_016866105.1:n.*2C>G
XM_017010617.1:c.*2C>G (SYNE1)	XP_016866106.1:n.*2C>G
XM_017010618.1:c.*2C>G (SYNE1)	XP_016866107.1:n.*2C>G
XM_017010619.1:c.24613C>G (SYNE1)	XP_016866108.1:p.Pro8205Ala
NM_182961.4:c.26191C>G (SYNE1) MANE Select	NP_892006.3:p.Pro8731Ala
NM_001328100.2:c.851-2627G>C (ESR1)	NP_001315029.1:n.851-2627G>C
NM_001347701.2:c.*2C>G (SYNE1)	NP_001334630.1:n.*2C>G
NM_001347702.2:c.2725C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro909Ala
NM_033071.5:c.26047C>G (SYNE1)	NP_149062.2:p.Pro8683Ala