Canonical Allele Identifier: CA348401225

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183709G>T (hg19) ; chr2:g.127426133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426133G>T , CM000664.2:g.127426133G>T	GRCh38
NC_000002.11:g.128183709G>T , CM000664.1:g.128183709G>T	GRCh37
NC_000002.10:g.127900179G>T	NCBI36
NG_016323.1:g.12714G>T , LRG_599:g.12714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.584G>T MANE Select	ENSP00000234071.4:p.Ser195Ile
ENST00000234071.7:c.584G>T	ENSP00000234071.3:p.Ser195Ile
ENST00000402125.2:c.121-2224G>T
ENST00000409048.1:c.686G>T	ENSP00000386679.1:p.Ser229Ile
ENST00000464089.1:n.170G>T
NM_000312.3:c.584G>T , LRG_599t1:c.584G>T	NP_000303.1:p.Ser195Ile
XM_005263715.3:c.767G>T	XP_005263772.1:p.Ser256Ile
XM_005263716.3:c.749G>T	XP_005263773.1:p.Ser250Ile
XM_005263717.3:c.647G>T	XP_005263774.1:p.Ser216Ile
XM_005263717.4:c.647G>T	XP_005263774.1:p.Ser216Ile
XM_017004505.1:c.827G>T	XP_016859994.1:p.Ser276Ile
XM_024453002.1:c.929G>T	XP_024308770.1:p.Ser310Ile
XM_024453003.1:c.869G>T	XP_024308771.1:p.Ser290Ile
XM_024453004.1:c.767G>T	XP_024308772.1:p.Ser256Ile
XM_024453005.1:c.749G>T	XP_024308773.1:p.Ser250Ile
XM_024453006.1:c.686G>T	XP_024308774.1:p.Ser229Ile
XR_923313.2:n.4452C>A
NM_000312.4:c.584G>T MANE Select	NP_000303.1:p.Ser195Ile
NM_001375602.1:c.767G>T	NP_001362531.1:p.Ser256Ile
NM_001375603.1:c.749G>T	NP_001362532.1:p.Ser250Ile
NM_001375604.1:c.647G>T	NP_001362533.1:p.Ser216Ile
NM_001375605.1:c.686G>T	NP_001362534.1:p.Ser229Ile
NM_001375606.1:c.752G>T	NP_001362535.1:p.Ser251Ile
NM_001375607.1:c.770G>T	NP_001362536.1:p.Ser257Ile
NM_001375608.1:c.527G>T	NP_001362537.1:p.Ser176Ile
NM_001375609.1:c.560G>T	NP_001362538.1:p.Ser187Ile
NM_001375610.1:c.578G>T	NP_001362539.1:p.Ser193Ile
NM_001375611.1:c.584G>T	NP_001362540.1:p.Ser195Ile
NM_001375613.1:c.584G>T	NP_001362542.1:p.Ser195Ile