Canonical Allele Identifier: CA1774866083

Gene: NRG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.32756465T= , CM000670.2:g.32756465T=	GRCh38
NC_000008.10:g.32613983T= , CM000670.1:g.32613983T=	GRCh37
NC_000008.9:g.32733525T=	NCBI36
NG_012005.1:g.1121716T=
NG_012005.2:g.1122244T=

Transcript Alleles

HGVS	Amino-acid Change
NM_013964.5:c.866T= MANE Select	NP_039258.1:p.Met289=
ENST00000405005.8:c.866T= MANE Select	ENSP00000384620.2:p.Met289=
NM_001159995.1:c.767T=	NP_001153467.1:p.Met256=
NM_001159995.2:c.767T=	NP_001153467.1:p.Met256=
NM_001159995.3:c.767T=	NP_001153467.1:p.Met256=
NM_001159996.1:c.404T=	NP_001153468.1:p.Met135=
NM_001159996.2:c.404T=	NP_001153468.1:p.Met135=
NM_001159996.3:c.404T=	NP_001153468.1:p.Met135=
NM_001159999.1:c.818T=	NP_001153471.1:p.Met273=
NM_001159999.2:c.818T=	NP_001153471.1:p.Met273=
NM_001159999.3:c.818T=	NP_001153471.1:p.Met273=
NM_001160001.1:c.716T=	NP_001153473.1:p.Met239=
NM_001160001.2:c.716T=	NP_001153473.1:p.Met239=
NM_001160001.3:c.716T=	NP_001153473.1:p.Met239=
NM_001160004.1:c.857T=	NP_001153476.1:p.Met286=
NM_001160004.2:c.857T=	NP_001153476.1:p.Met286=
NM_001160004.3:c.857T=	NP_001153476.1:p.Met286=
NM_001160008.1:c.857T=	NP_001153480.1:p.Met286=
NM_001160008.2:c.857T=	NP_001153480.1:p.Met286=
NM_001322197.1:c.395T=	NP_001309126.1:p.Met132=
NM_001322197.2:c.395T=	NP_001309126.1:p.Met132=
NM_001322201.1:c.92T=	NP_001309130.1:p.Met31=
NM_001322201.2:c.92T=	NP_001309130.1:p.Met31=
NM_001322202.1:c.92T=	NP_001309131.1:p.Met31=
NM_001322202.2:c.92T=	NP_001309131.1:p.Met31=
NM_001322205.1:c.1046T=	NP_001309134.1:p.Met349=
NM_001322205.2:c.1046T=	NP_001309134.1:p.Met349=
NM_001322206.1:c.1046T=	NP_001309135.1:p.Met349=
NM_001322206.2:c.1046T=	NP_001309135.1:p.Met349=
NM_001322207.1:c.1046T=	NP_001309136.1:p.Met349=
NM_001322207.2:c.1046T=	NP_001309136.1:p.Met349=
NM_013956.3:c.881T=	NP_039250.2:p.Met294=
NM_013956.4:c.881T=	NP_039250.2:p.Met294=
NM_013956.5:c.881T=	NP_039250.2:p.Met294=
NM_013957.3:c.857T=	NP_039251.2:p.Met286=
NM_013957.4:c.857T=	NP_039251.2:p.Met286=
NM_013957.5:c.857T=	NP_039251.2:p.Met286=
NM_013960.3:c.866T=	NP_039254.1:p.Met289=
NM_013960.4:c.866T=	NP_039254.1:p.Met289=
NM_013960.5:c.866T=	NP_039254.1:p.Met289=
NM_013964.3:c.866T=	NP_039258.1:p.Met289=
NM_013964.4:c.866T=	NP_039258.1:p.Met289=
ENST00000287842.7:c.881T=	ENSP00000287842.4:p.Met294=
ENST00000356819.7:c.857T=	ENSP00000349275.6:p.Met286=
ENST00000405005.7:c.866T=	ENSP00000384620.2:p.Met289=
ENST00000518104.5:c.767T=	ENSP00000430053.1:p.Met256=
ENST00000519240.5:c.395T=	ENSP00000428411.1:p.Met132=
ENST00000519301.5:c.716T=	ENSP00000429582.1:p.Met239=
ENST00000519301.6:c.716T=	ENSP00000429582.1:p.Met239=
ENST00000521670.5:c.866T=	ENSP00000428828.1:p.Met289=
ENST00000522402.6:c.404T=	ENSP00000430862.2:p.Met135=
ENST00000522569.1:n.596T=
ENST00000523079.5:c.857T=	ENSP00000430120.1:p.Met286=
ENST00000523534.5:c.1085T=	ENSP00000429067.1:p.Met362=
ENST00000539990.3:c.404T=	ENSP00000439276.2:p.Met135=
ENST00000650819.1:c.1046T=	ENSP00000498946.1:p.Met349=
ENST00000650856.1:c.*39T=	ENSP00000498216.1:n.*39T=
ENST00000650866.1:c.818T=	ENSP00000499045.1:p.Met273=
ENST00000650980.1:c.857T=	ENSP00000498583.1:p.Met286=
ENST00000651333.1:c.1046T=	ENSP00000498590.1:p.Met349=
ENST00000651333.2:c.1046T=	ENSP00000498590.1:p.Met349=
ENST00000651335.1:c.604+1991T=
ENST00000651696.1:c.732T=
ENST00000652588.1:c.980T=	ENSP00000498367.1:p.Met327=
ENST00000652592.1:c.1046T=	ENSP00000498646.1:p.Met349=
ENST00000652698.1:c.767T=	ENSP00000499008.1:p.Met256=
XM_005273485.2:c.1046T=	XP_005273542.1:p.Met349=
XM_005273486.2:c.1031T=	XP_005273543.1:p.Met344=
XM_005273486.3:c.1031T=	XP_005273543.1:p.Met344=
XM_005273487.2:c.1022T=	XP_005273544.1:p.Met341=
XM_005273487.3:c.1022T=	XP_005273544.1:p.Met341=
XM_006716335.2:c.206T=	XP_006716398.1:p.Met69=
XM_006716335.3:c.206T=	XP_006716398.1:p.Met69=
XM_011544512.1:c.902T=	XP_011542814.1:p.Met301=
XM_011544512.2:c.902T=	XP_011542814.1:p.Met301=
XM_011544513.1:c.1046T=	XP_011542815.1:p.Met349=
XM_011544514.1:c.1031T=	XP_011542816.1:p.Met344=
XM_017013365.2:c.887T=	XP_016868854.1:p.Met296=
XM_017013366.2:c.878T=	XP_016868855.1:p.Met293=
XM_017013367.1:c.800T=	XP_016868856.1:p.Met267=
XM_017013368.2:c.779T=	XP_016868857.1:p.Met260=
XM_017013369.2:c.419T=	XP_016868858.1:p.Met140=
XM_017013370.1:c.404T=	XP_016868859.1:p.Met135=
XM_017013371.2:c.887T=	XP_016868860.1:p.Met296=
XM_017013372.2:c.878T=	XP_016868861.1:p.Met293=
XM_024447143.1:c.764T=	XP_024302911.1:p.Met255=