Canonical Allele Identifier: CA349427108

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178537168-G-A
• MyVariant Identifiers: chr2:g.179401895G>A (hg19) ; chr2:g.178537168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537168G>A , CM000664.2:g.178537168G>A	GRCh38
NC_000002.11:g.179401895G>A , CM000664.1:g.179401895G>A	GRCh37
NC_000002.10:g.179110141G>A	NCBI36
NG_011618.3:g.298635C>T , LRG_391:g.298635C>T
NG_051363.1:g.19342G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92237C>T (TTN)	ENSP00000343764.6:p.Pro30746Leu
ENST00000342175.11:c.73322C>T (TTN)	ENSP00000340554.6:p.Pro24441Leu
ENST00000359218.10:c.73121C>T (TTN)	ENSP00000352154.5:p.Pro24374Leu
ENST00000342175.10:c.73322C>T (TTN)	ENSP00000340554.6:p.Pro24441Leu
ENST00000342992.10:c.92237C>T (TTN)	ENSP00000343764.6:p.Pro30746Leu
ENST00000359218.9:c.73121C>T (TTN)	ENSP00000352154.5:p.Pro24374Leu
ENST00000460472.6:c.72746C>T (TTN)	ENSP00000434586.1:p.Pro24249Leu
ENST00000589042.5:c.99941C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33314Leu
ENST00000591111.5:c.95018C>T (TTN)	ENSP00000465570.1:p.Pro31673Leu
ENST00000615779.4:c.95018C>T (TTN)	ENSP00000483597.1:p.Pro31673Leu
NM_001256850.1:c.95018C>T (TTN)	NP_001243779.1:p.Pro31673Leu
NM_001267550.2:c.99941C>T (TTN) MANE Select	NP_001254479.2:p.Pro33314Leu
NM_003319.4:c.72746C>T (TTN)	NP_003310.4:p.Pro24249Leu
NM_133378.4:c.92237C>T (TTN)	NP_596869.4:p.Pro30746Leu
NM_133432.3:c.73121C>T (TTN)	NP_597676.3:p.Pro24374Leu
NM_133437.4:c.73322C>T (TTN)	NP_597681.4:p.Pro24441Leu
NR_038271.1:n.446+13532G>A (TTN-AS1)
NR_038272.1:n.317-193G>A (TTN-AS1)
XM_011511729.1:c.99038C>T (TTN)	XP_011510031.1:p.Pro33013Leu
XM_011511730.1:c.72932C>T (TTN)	XP_011510032.1:p.Pro24311Leu
XM_011511731.1:c.72791C>T (TTN)	XP_011510033.1:p.Pro24264Leu
XM_017004819.1:c.98834C>T (TTN)	XP_016860308.1:p.Pro32945Leu
XM_017004820.1:c.94232C>T (TTN)	XP_016860309.1:p.Pro31411Leu
XM_017004821.1:c.94229C>T (TTN)	XP_016860310.1:p.Pro31410Leu
XM_017004822.1:c.91271C>T (TTN)	XP_016860311.1:p.Pro30424Leu
XM_017004823.1:c.72887C>T (TTN)	XP_016860312.1:p.Pro24296Leu
XM_024453094.1:c.94382C>T (TTN)	XP_024308862.1:p.Pro31461Leu
XM_024453095.1:c.94379C>T (TTN)	XP_024308863.1:p.Pro31460Leu
XM_024453096.1:c.93812C>T (TTN)	XP_024308864.1:p.Pro31271Leu
XM_024453097.1:c.91154C>T (TTN)	XP_024308865.1:p.Pro30385Leu
XM_024453098.1:c.91073C>T (TTN)	XP_024308866.1:p.Pro30358Leu
XM_024453099.1:c.72836C>T (TTN)	XP_024308867.1:p.Pro24279Leu
XM_024453100.1:c.62690C>T (TTN)	XP_024308868.1:p.Pro20897Leu