Canonical Allele Identifier: CA366088434

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443585G>C (hg19) ; chr6:g.152122450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122450G>C , CM000668.2:g.152122450G>C	GRCh38
NC_000006.11:g.152443585G>C , CM000668.1:g.152443585G>C	GRCh37
NC_000006.10:g.152485278G>C	NCBI36
NG_012855.1:g.519950C>G
NG_008493.2:g.470760G>C
NG_012855.2:g.519950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2914C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro972Ala
ENST00000367255.10:c.26380C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8794Ala
ENST00000423061.6:c.26236C>G (SYNE1)	ENSP00000396024.1:p.Pro8746Ala
ENST00000672154.1:c.1723C>G (SYNE1)
ENST00000672169.1:c.2098C>G (SYNE1)
ENST00000673173.1:c.1965C>G (SYNE1)
ENST00000673451.1:c.2230C>G (SYNE1)	ENSP00000500189.1:n.2230C>G
ENST00000341594.9:c.25165C>G (SYNE1)	ENSP00000341887.6:p.Pro8389Ala
ENST00000347037.9:n.3128C>G (SYNE1)
ENST00000354674.4:c.2914C>G (SYNE1)	ENSP00000346701.4:p.Pro972Ala
ENST00000367251.7:c.5156C>G (SYNE1)	ENSP00000356220.3:n.5156C>G
ENST00000367255.9:c.26380C>G (SYNE1)	ENSP00000356224.5:p.Pro8794Ala
ENST00000367256.9:n.10072C>G (SYNE1)
ENST00000367257.8:c.4259C>G (SYNE1)	ENSP00000356226.4:n.4259C>G
ENST00000409694.6:n.9964C>G (SYNE1)
ENST00000423061.5:c.26236C>G (SYNE1)	ENSP00000396024.1:p.Pro8746Ala
ENST00000427531.6:c.851-2816G>C (ESR1)	ENSP00000394721.2:n.851-2816G>C
ENST00000460912.6:n.2994C>G (SYNE1)
ENST00000478916.5:n.7017C>G (SYNE1)
ENST00000539504.5:c.2845C>G (SYNE1)	ENSP00000441052.1:p.Pro949Ala
NM_033071.3:c.26236C>G (SYNE1)	NP_149062.1:p.Pro8746Ala
NM_182961.3:c.26380C>G (SYNE1)	NP_892006.3:p.Pro8794Ala
XM_006715407.1:c.26527C>G (SYNE1)	XP_006715470.1:p.Pro8843Ala
XM_006715408.1:c.26515C>G (SYNE1)	XP_006715471.1:p.Pro8839Ala
XM_006715409.1:c.26506C>G (SYNE1)	XP_006715472.1:p.Pro8836Ala
XM_006715410.1:c.26485C>G (SYNE1)	XP_006715473.1:p.Pro8829Ala
XM_006715411.1:c.26476C>G (SYNE1)	XP_006715474.1:p.Pro8826Ala
XM_006715412.1:c.26470C>G (SYNE1)	XP_006715475.1:p.Pro8824Ala
XM_006715413.1:c.26458C>G (SYNE1)	XP_006715476.1:p.Pro8820Ala
XM_006715414.1:c.26455C>G (SYNE1)	XP_006715477.1:p.Pro8819Ala
XM_006715415.1:c.26416C>G (SYNE1)	XP_006715478.1:p.Pro8806Ala
XM_006715416.1:c.26401C>G (SYNE1)	XP_006715479.1:p.Pro8801Ala
XM_006715417.1:c.26386C>G (SYNE1)	XP_006715480.1:p.Pro8796Ala
XM_006715420.1:c.26374C>G (SYNE1)	XP_006715483.1:p.Pro8792Ala
XM_006715421.1:c.26371C>G (SYNE1)	XP_006715484.1:p.Pro8791Ala
XM_006715422.1:c.26368C>G (SYNE1)	XP_006715485.1:p.Pro8790Ala
XM_006715423.1:c.*191C>G (SYNE1)	XP_006715486.1:n.*191C>G
XM_006715424.1:c.*191C>G (SYNE1)	XP_006715487.1:n.*191C>G
XM_006715425.1:c.*191C>G (SYNE1)	XP_006715488.1:n.*191C>G
XM_011535641.1:c.26524C>G (SYNE1)	XP_011533943.1:p.Pro8842Ala
XM_011535642.1:c.26512C>G (SYNE1)	XP_011533944.1:p.Pro8838Ala
XM_011535643.1:c.26362C>G (SYNE1)	XP_011533945.1:p.Pro8788Ala
XM_011535644.1:c.24802C>G (SYNE1)	XP_011533946.1:p.Pro8268Ala
XM_011535645.1:c.24295C>G (SYNE1)	XP_011533947.1:p.Pro8099Ala
XM_011535647.1:c.19762C>G (SYNE1)	XP_011533949.1:p.Pro6588Ala
NM_001328100.1:c.851-2816G>C (ESR1)	NP_001315029.1:n.851-2816G>C
NM_001347701.1:c.*191C>G (SYNE1)	NP_001334630.1:n.*191C>G
NM_001347702.1:c.2914C>G (SYNE1)	NP_001334631.1:p.Pro972Ala
XM_006715408.2:c.26515C>G (SYNE1)	XP_006715471.1:p.Pro8839Ala
XM_006715410.2:c.26485C>G (SYNE1)	XP_006715473.1:p.Pro8829Ala
XM_006715412.2:c.26470C>G (SYNE1)	XP_006715475.1:p.Pro8824Ala
XM_006715413.2:c.26458C>G (SYNE1)	XP_006715476.1:p.Pro8820Ala
XM_006715415.2:c.26416C>G (SYNE1)	XP_006715478.1:p.Pro8806Ala
XM_006715416.2:c.26401C>G (SYNE1)	XP_006715479.1:p.Pro8801Ala
XM_006715417.2:c.26386C>G (SYNE1)	XP_006715480.1:p.Pro8796Ala
XM_006715420.2:c.26374C>G (SYNE1)	XP_006715483.1:p.Pro8792Ala
XM_006715421.2:c.26371C>G (SYNE1)	XP_006715484.1:p.Pro8791Ala
XM_006715423.2:c.*191C>G (SYNE1)	XP_006715486.1:n.*191C>G
XM_006715424.2:c.*191C>G (SYNE1)	XP_006715487.1:n.*191C>G
XM_006715425.2:c.*191C>G (SYNE1)	XP_006715488.1:n.*191C>G
XM_011535641.2:c.26524C>G (SYNE1)	XP_011533943.1:p.Pro8842Ala
XM_011535642.2:c.26512C>G (SYNE1)	XP_011533944.1:p.Pro8838Ala
XM_011535645.2:c.24295C>G (SYNE1)	XP_011533947.1:p.Pro8099Ala
XM_017010608.1:c.26527C>G (SYNE1)	XP_016866097.1:p.Pro8843Ala
XM_017010609.1:c.26527C>G (SYNE1)	XP_016866098.1:p.Pro8843Ala
XM_017010610.1:c.26506C>G (SYNE1)	XP_016866099.1:p.Pro8836Ala
XM_017010611.2:c.26500C>G (SYNE1)	XP_016866100.1:p.Pro8834Ala
XM_017010612.1:c.26449C>G (SYNE1)	XP_016866101.1:p.Pro8817Ala
XM_017010613.1:c.26413C>G (SYNE1)	XP_016866102.1:p.Pro8805Ala
XM_017010614.1:c.26371C>G (SYNE1)	XP_016866103.1:p.Pro8791Ala
XM_017010615.1:c.26260C>G (SYNE1)	XP_016866104.1:p.Pro8754Ala
XM_017010616.1:c.*191C>G (SYNE1)	XP_016866105.1:n.*191C>G
XM_017010617.1:c.*191C>G (SYNE1)	XP_016866106.1:n.*191C>G
XM_017010618.1:c.*191C>G (SYNE1)	XP_016866107.1:n.*191C>G
XM_017010619.1:c.24802C>G (SYNE1)	XP_016866108.1:p.Pro8268Ala
NM_182961.4:c.26380C>G (SYNE1) MANE Select	NP_892006.3:p.Pro8794Ala
NM_001328100.2:c.851-2816G>C (ESR1)	NP_001315029.1:n.851-2816G>C
NM_001347701.2:c.*191C>G (SYNE1)	NP_001334630.1:n.*191C>G
NM_001347702.2:c.2914C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro972Ala
NM_033071.5:c.26236C>G (SYNE1)	NP_149062.2:p.Pro8746Ala