Canonical Allele Identifier: CA4705475

Gene: NRG1

Linked Data

• dbSNP Id: rs201046028
• ExAC: 8:32453356 C / T
• gnomAD v2: 8-32453356-C-T
• MyVariant Identifiers: chr8:g.32453356C>T (hg19) ; chr8:g.32595838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.32595838C>T , CM000670.2:g.32595838C>T	GRCh38
NC_000008.10:g.32453356C>T , CM000670.1:g.32453356C>T	GRCh37
NC_000008.9:g.32572898C>T	NCBI36
NG_012005.1:g.961089C>T
NG_012005.2:g.961617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405005.8:c.111C>T MANE Select	ENSP00000384620.2:p.Pro37=
ENST00000519301.6:c.48C>T	ENSP00000429582.1:p.Pro16=
ENST00000650856.1:c.48C>T	ENSP00000498216.1:p.Pro16=
ENST00000650866.1:c.48C>T	ENSP00000499045.1:p.Pro16=
ENST00000650919.1:c.111C>T	ENSP00000498811.1:p.Pro37=
ENST00000650964.1:n.108C>T
ENST00000650967.1:c.111C>T	ENSP00000498833.1:p.Pro37=
ENST00000650980.1:c.111C>T	ENSP00000498583.1:p.Pro37=
ENST00000651149.1:c.48C>T	ENSP00000498375.1:p.Pro16=
ENST00000651175.1:n.108C>T
ENST00000651335.1:c.82C>T
ENST00000651807.1:n.548C>T
ENST00000652588.1:c.225C>T	ENSP00000498367.1:p.Pro75=
ENST00000652698.1:c.48C>T	ENSP00000499008.1:p.Pro16=
ENST00000287842.7:c.111C>T	ENSP00000287842.4:p.Pro37=
ENST00000356819.7:c.111C>T	ENSP00000349275.6:p.Pro37=
ENST00000405005.7:c.111C>T	ENSP00000384620.2:p.Pro37=
ENST00000518104.5:c.48C>T	ENSP00000430053.1:p.Pro16=
ENST00000519301.5:c.48C>T	ENSP00000429582.1:p.Pro16=
ENST00000520407.5:c.756C>T	ENSP00000434640.1:p.Pro252=
ENST00000521670.5:c.111C>T	ENSP00000428828.1:p.Pro37=
ENST00000523079.5:c.111C>T	ENSP00000430120.1:p.Pro37=
ENST00000523534.5:c.315C>T	ENSP00000429067.1:p.Pro105=
ENST00000631040.2:c.60C>T	ENSP00000486375.1:p.Pro20=
NM_001159995.1:c.48C>T	NP_001153467.1:p.Pro16=
NM_001159999.1:c.48C>T	NP_001153471.1:p.Pro16=
NM_001160001.1:c.48C>T	NP_001153473.1:p.Pro16=
NM_001160002.1:c.111C>T	NP_001153474.1:p.Pro37=
NM_001160004.1:c.111C>T	NP_001153476.1:p.Pro37=
NM_001160005.1:c.111C>T	NP_001153477.1:p.Pro37=
NM_001160007.1:c.111C>T	NP_001153479.1:p.Pro37=
NM_001160008.1:c.111C>T	NP_001153480.1:p.Pro37=
NM_004495.3:c.111C>T	NP_004486.2:p.Pro37=
NM_013956.3:c.111C>T	NP_039250.2:p.Pro37=
NM_013957.3:c.111C>T	NP_039251.2:p.Pro37=
NM_013958.3:c.111C>T	NP_039252.2:p.Pro37=
NM_013960.3:c.111C>T	NP_039254.1:p.Pro37=
NM_013962.2:c.756C>T	NP_039256.2:p.Pro252=
NM_013964.3:c.111C>T	NP_039258.1:p.Pro37=
XM_011544512.1:c.132C>T	XP_011542814.1:p.Pro44=
NM_001159995.2:c.48C>T	NP_001153467.1:p.Pro16=
NM_001159999.2:c.48C>T	NP_001153471.1:p.Pro16=
NM_001160001.2:c.48C>T	NP_001153473.1:p.Pro16=
NM_001160004.2:c.111C>T	NP_001153476.1:p.Pro37=
NM_001322201.1:c.-545C>T	NP_001309130.1:n.-545C>T
NM_001322202.1:c.-494C>T	NP_001309131.1:n.-494C>T
NM_013956.4:c.111C>T	NP_039250.2:p.Pro37=
NM_013957.4:c.111C>T	NP_039251.2:p.Pro37=
NM_013960.4:c.111C>T	NP_039254.1:p.Pro37=
NM_013964.4:c.111C>T	NP_039258.1:p.Pro37=
XM_011544512.2:c.132C>T	XP_011542814.1:p.Pro44=
XM_017013365.2:c.132C>T	XP_016868854.1:p.Pro44=
XM_017013366.2:c.132C>T	XP_016868855.1:p.Pro44=
XM_017013367.1:c.132C>T	XP_016868856.1:p.Pro44=
XM_017013368.2:c.111C>T	XP_016868857.1:p.Pro37=
XM_017013371.2:c.132C>T	XP_016868860.1:p.Pro44=
XM_017013372.2:c.132C>T	XP_016868861.1:p.Pro44=
XM_024447143.1:c.111C>T	XP_024302911.1:p.Pro37=
NM_001159995.3:c.48C>T	NP_001153467.1:p.Pro16=
NM_001159999.3:c.48C>T	NP_001153471.1:p.Pro16=
NM_001160001.3:c.48C>T	NP_001153473.1:p.Pro16=
NM_001160002.2:c.111C>T	NP_001153474.1:p.Pro37=
NM_001160004.3:c.111C>T	NP_001153476.1:p.Pro37=
NM_001160007.2:c.111C>T	NP_001153479.1:p.Pro37=
NM_001160008.2:c.111C>T	NP_001153480.1:p.Pro37=
NM_001322201.2:c.-545C>T	NP_001309130.1:n.-545C>T
NM_001322202.2:c.-494C>T	NP_001309131.1:n.-494C>T
NM_004495.4:c.111C>T	NP_004486.2:p.Pro37=
NM_013956.5:c.111C>T	NP_039250.2:p.Pro37=
NM_013957.5:c.111C>T	NP_039251.2:p.Pro37=
NM_013960.5:c.111C>T	NP_039254.1:p.Pro37=
NM_013964.5:c.111C>T MANE Select	NP_039258.1:p.Pro37=
NM_001160005.2:c.111C>T	NP_001153477.1:p.Pro37=
NM_013958.4:c.111C>T	NP_039252.2:p.Pro37=
NM_013962.3:c.756C>T	NP_039256.2:p.Pro252=