Canonical Allele Identifier: CA366089019

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122593-C-A
• MyVariant Identifiers: chr6:g.152443728C>A (hg19) ; chr6:g.152122593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122593C>A , CM000668.2:g.152122593C>A	GRCh38
NC_000006.11:g.152443728C>A , CM000668.1:g.152443728C>A	GRCh37
NC_000006.10:g.152485421C>A	NCBI36
NG_012855.1:g.519807G>T
NG_008493.2:g.470903C>A
NG_012855.2:g.519807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2771G>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg924Leu
ENST00000367255.10:c.26237G>T (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8746Leu
ENST00000423061.6:c.26093G>T (SYNE1)	ENSP00000396024.1:p.Arg8698Leu
ENST00000672154.1:c.1580G>T (SYNE1)
ENST00000672169.1:c.1955G>T (SYNE1)
ENST00000673173.1:c.1822G>T (SYNE1)
ENST00000673451.1:c.2087G>T (SYNE1)	ENSP00000500189.1:n.2087G>T
ENST00000341594.9:c.25022G>T (SYNE1)	ENSP00000341887.6:p.Arg8341Leu
ENST00000347037.9:n.2985G>T (SYNE1)
ENST00000354674.4:c.2771G>T (SYNE1)	ENSP00000346701.4:p.Arg924Leu
ENST00000367251.7:c.5013G>T (SYNE1)	ENSP00000356220.3:n.5013G>T
ENST00000367255.9:c.26237G>T (SYNE1)	ENSP00000356224.5:p.Arg8746Leu
ENST00000367256.9:n.9929G>T (SYNE1)
ENST00000367257.8:c.4116G>T (SYNE1)	ENSP00000356226.4:n.4116G>T
ENST00000409694.6:n.9821G>T (SYNE1)
ENST00000423061.5:c.26093G>T (SYNE1)	ENSP00000396024.1:p.Arg8698Leu
ENST00000427531.6:c.851-2673C>A (ESR1)	ENSP00000394721.2:n.851-2673C>A
ENST00000460912.6:n.2851G>T (SYNE1)
ENST00000478916.5:n.6874G>T (SYNE1)
ENST00000539504.5:c.2702G>T (SYNE1)	ENSP00000441052.1:p.Arg901Leu
NM_033071.3:c.26093G>T (SYNE1)	NP_149062.1:p.Arg8698Leu
NM_182961.3:c.26237G>T (SYNE1)	NP_892006.3:p.Arg8746Leu
XM_006715407.1:c.26384G>T (SYNE1)	XP_006715470.1:p.Arg8795Leu
XM_006715408.1:c.26372G>T (SYNE1)	XP_006715471.1:p.Arg8791Leu
XM_006715409.1:c.26363G>T (SYNE1)	XP_006715472.1:p.Arg8788Leu
XM_006715410.1:c.26342G>T (SYNE1)	XP_006715473.1:p.Arg8781Leu
XM_006715411.1:c.26333G>T (SYNE1)	XP_006715474.1:p.Arg8778Leu
XM_006715412.1:c.26327G>T (SYNE1)	XP_006715475.1:p.Arg8776Leu
XM_006715413.1:c.26315G>T (SYNE1)	XP_006715476.1:p.Arg8772Leu
XM_006715414.1:c.26312G>T (SYNE1)	XP_006715477.1:p.Arg8771Leu
XM_006715415.1:c.26273G>T (SYNE1)	XP_006715478.1:p.Arg8758Leu
XM_006715416.1:c.26258G>T (SYNE1)	XP_006715479.1:p.Arg8753Leu
XM_006715417.1:c.26243G>T (SYNE1)	XP_006715480.1:p.Arg8748Leu
XM_006715420.1:c.26231G>T (SYNE1)	XP_006715483.1:p.Arg8744Leu
XM_006715421.1:c.26228G>T (SYNE1)	XP_006715484.1:p.Arg8743Leu
XM_006715422.1:c.26225G>T (SYNE1)	XP_006715485.1:p.Arg8742Leu
XM_006715423.1:c.*48G>T (SYNE1)	XP_006715486.1:n.*48G>T
XM_006715424.1:c.*48G>T (SYNE1)	XP_006715487.1:n.*48G>T
XM_006715425.1:c.*48G>T (SYNE1)	XP_006715488.1:n.*48G>T
XM_011535641.1:c.26381G>T (SYNE1)	XP_011533943.1:p.Arg8794Leu
XM_011535642.1:c.26369G>T (SYNE1)	XP_011533944.1:p.Arg8790Leu
XM_011535643.1:c.26219G>T (SYNE1)	XP_011533945.1:p.Arg8740Leu
XM_011535644.1:c.24659G>T (SYNE1)	XP_011533946.1:p.Arg8220Leu
XM_011535645.1:c.24152G>T (SYNE1)	XP_011533947.1:p.Arg8051Leu
XM_011535647.1:c.19619G>T (SYNE1)	XP_011533949.1:p.Arg6540Leu
NM_001328100.1:c.851-2673C>A (ESR1)	NP_001315029.1:n.851-2673C>A
NM_001347701.1:c.*48G>T (SYNE1)	NP_001334630.1:n.*48G>T
NM_001347702.1:c.2771G>T (SYNE1)	NP_001334631.1:p.Arg924Leu
XM_006715408.2:c.26372G>T (SYNE1)	XP_006715471.1:p.Arg8791Leu
XM_006715410.2:c.26342G>T (SYNE1)	XP_006715473.1:p.Arg8781Leu
XM_006715412.2:c.26327G>T (SYNE1)	XP_006715475.1:p.Arg8776Leu
XM_006715413.2:c.26315G>T (SYNE1)	XP_006715476.1:p.Arg8772Leu
XM_006715415.2:c.26273G>T (SYNE1)	XP_006715478.1:p.Arg8758Leu
XM_006715416.2:c.26258G>T (SYNE1)	XP_006715479.1:p.Arg8753Leu
XM_006715417.2:c.26243G>T (SYNE1)	XP_006715480.1:p.Arg8748Leu
XM_006715420.2:c.26231G>T (SYNE1)	XP_006715483.1:p.Arg8744Leu
XM_006715421.2:c.26228G>T (SYNE1)	XP_006715484.1:p.Arg8743Leu
XM_006715423.2:c.*48G>T (SYNE1)	XP_006715486.1:n.*48G>T
XM_006715424.2:c.*48G>T (SYNE1)	XP_006715487.1:n.*48G>T
XM_006715425.2:c.*48G>T (SYNE1)	XP_006715488.1:n.*48G>T
XM_011535641.2:c.26381G>T (SYNE1)	XP_011533943.1:p.Arg8794Leu
XM_011535642.2:c.26369G>T (SYNE1)	XP_011533944.1:p.Arg8790Leu
XM_011535645.2:c.24152G>T (SYNE1)	XP_011533947.1:p.Arg8051Leu
XM_017010608.1:c.26384G>T (SYNE1)	XP_016866097.1:p.Arg8795Leu
XM_017010609.1:c.26384G>T (SYNE1)	XP_016866098.1:p.Arg8795Leu
XM_017010610.1:c.26363G>T (SYNE1)	XP_016866099.1:p.Arg8788Leu
XM_017010611.2:c.26357G>T (SYNE1)	XP_016866100.1:p.Arg8786Leu
XM_017010612.1:c.26306G>T (SYNE1)	XP_016866101.1:p.Arg8769Leu
XM_017010613.1:c.26270G>T (SYNE1)	XP_016866102.1:p.Arg8757Leu
XM_017010614.1:c.26228G>T (SYNE1)	XP_016866103.1:p.Arg8743Leu
XM_017010615.1:c.26117G>T (SYNE1)	XP_016866104.1:p.Arg8706Leu
XM_017010616.1:c.*48G>T (SYNE1)	XP_016866105.1:n.*48G>T
XM_017010617.1:c.*48G>T (SYNE1)	XP_016866106.1:n.*48G>T
XM_017010618.1:c.*48G>T (SYNE1)	XP_016866107.1:n.*48G>T
XM_017010619.1:c.24659G>T (SYNE1)	XP_016866108.1:p.Arg8220Leu
NM_182961.4:c.26237G>T (SYNE1) MANE Select	NP_892006.3:p.Arg8746Leu
NM_001328100.2:c.851-2673C>A (ESR1)	NP_001315029.1:n.851-2673C>A
NM_001347701.2:c.*48G>T (SYNE1)	NP_001334630.1:n.*48G>T
NM_001347702.2:c.2771G>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg924Leu
NM_033071.5:c.26093G>T (SYNE1)	NP_149062.2:p.Arg8698Leu