Canonical Allele Identifier: CA391696550

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40308756G>T (hg19) ; chr15:g.40016555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016555G>T , CM000677.2:g.40016555G>T	GRCh38
NC_000015.9:g.40308756G>T , CM000677.1:g.40308756G>T	GRCh37
NC_000015.8:g.38096048G>T	NCBI36
NG_034053.1:g.87432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3813G>T MANE Select	ENSP00000263791.5:p.Met1271Ile
ENST00000263791.9:c.3813G>T	ENSP00000263791.5:p.Met1271Ile
ENST00000558557.1:n.923-553G>T
ENST00000558629.5:n.2730G>T
ENST00000560855.5:c.3145G>T
NM_001013703.3:c.3813G>T	NP_001013725.2:p.Met1271Ile
XM_005254392.1:c.3813G>T	XP_005254449.1:p.Met1271Ile
XM_011521599.1:c.3813G>T	XP_011519901.1:p.Met1271Ile
XM_011521600.1:c.3760-553G>T	XP_011519902.1:n.3760-553G>T
XM_005254392.3:c.3813G>T	XP_005254449.1:p.Met1271Ile
XM_011521599.2:c.3813G>T	XP_011519901.1:p.Met1271Ile
XM_011521600.3:c.3760-553G>T	XP_011519902.1:n.3760-553G>T
XM_017022219.2:c.3760-553G>T	XP_016877708.1:n.3760-553G>T
NM_001013703.4:c.3813G>T MANE Select	NP_001013725.2:p.Met1271Ile