Canonical Allele Identifier: CA348231250

Gene: MERTK

Linked Data

• gnomAD v4: 2-111997374-C-T
• MyVariant Identifiers: chr2:g.112754951C>T (hg19) ; chr2:g.111997374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997374C>T , CM000664.2:g.111997374C>T	GRCh38
NC_000002.11:g.112754951C>T , CM000664.1:g.112754951C>T	GRCh37
NC_000002.10:g.112471422C>T	NCBI36
NG_011607.1:g.103761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1502C>T MANE Select	ENSP00000295408.4:p.Pro501Leu
ENST00000295408.8:c.1502C>T	ENSP00000295408.4:p.Pro501Leu
ENST00000409780.5:c.974C>T	ENSP00000387277.1:p.Pro325Leu
ENST00000421804.6:c.1502C>T	ENSP00000389152.2:p.Pro501Leu
ENST00000439966.5:c.*975C>T	ENSP00000402129.1:n.*975C>T
ENST00000473065.1:n.5C>T
ENST00000616902.4:c.471C>T	ENSP00000482824.1:p.Ser157=
NM_006343.2:c.1502C>T	NP_006334.2:p.Pro501Leu
XM_005263565.3:c.1502C>T	XP_005263622.1:p.Pro501Leu
XM_005263568.3:c.1502C>T	XP_005263625.1:p.Pro501Leu
XM_011510490.1:c.1313C>T	XP_011508792.1:p.Pro438Leu
XM_011510491.1:c.287C>T	XP_011508793.1:p.Pro96Leu
XM_005263565.4:c.1502C>T	XP_005263622.1:p.Pro501Leu
XM_005263568.4:c.1502C>T	XP_005263625.1:p.Pro501Leu
XM_011510490.3:c.1313C>T	XP_011508792.1:p.Pro438Leu
XM_017003164.1:c.1313C>T	XP_016858653.1:p.Pro438Leu
XM_017003165.2:c.287C>T	XP_016858654.1:p.Pro96Leu
NM_006343.3:c.1502C>T MANE Select	NP_006334.2:p.Pro501Leu