Canonical Allele Identifier: CA391717806

Gene: IVD

Linked Data

• gnomAD v4: 15-40411641-C-A
• MyVariant Identifiers: chr15:g.40703840C>A (hg19) ; chr15:g.40411641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411641C>A , CM000677.2:g.40411641C>A	GRCh38
NC_000015.9:g.40703840C>A , CM000677.1:g.40703840C>A	GRCh37
NC_000015.8:g.38491132C>A	NCBI36
NG_011986.1:g.11155C>A
NG_011986.2:g.11157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.547C>A	ENSP00000417990.3:p.Leu183Met
ENST00000487418.8:c.637C>A MANE Select	ENSP00000418397.3:p.Leu213Met
ENST00000650656.1:c.556C>A	ENSP00000498731.1:p.Leu186Met
ENST00000651168.1:c.646C>A	ENSP00000499074.1:p.Leu216Met
ENST00000473112.6:c.396C>A
ENST00000479013.6:c.556C>A	ENSP00000417990.2:p.Leu186Met
ENST00000481262.6:c.243C>A
ENST00000484250.1:n.260C>A
ENST00000487418.6:c.646C>A	ENSP00000418397.2:p.Leu216Met
ENST00000491554.6:c.34C>A	ENSP00000453146.1:p.Leu12Met
ENST00000558610.5:c.589C>A	ENSP00000453821.1:p.Leu197Met
NM_001159508.1:c.556C>A	NP_001152980.1:p.Leu186Met
NM_002225.3:c.646C>A	NP_002216.2:p.Leu216Met
XM_005254350.2:c.646C>A	XP_005254407.1:p.Leu216Met
XM_005254356.2:c.646C>A	XP_005254413.1:p.Leu216Met
XM_006720491.2:c.589C>A	XP_006720554.1:p.Leu197Met
XM_006720492.2:c.646C>A	XP_006720555.1:p.Leu216Met
XM_006720493.2:c.646C>A	XP_006720556.1:p.Leu216Met
XM_006720494.2:c.646C>A	XP_006720557.1:p.Leu216Met
XM_006720495.2:c.646C>A	XP_006720558.1:p.Leu216Met
XM_011521523.1:c.646C>A	XP_011519825.1:p.Leu216Met
XM_011521524.1:c.646C>A	XP_011519826.1:p.Leu216Met
XR_243097.3:n.646C>A
XR_243098.2:n.646C>A
XR_429453.2:n.747C>A
NM_001159508.2:c.547C>A	NP_001152980.2:p.Leu183Met
NM_001354597.2:c.589C>A	NP_001341526.1:p.Leu197Met
NM_001354598.2:c.637C>A	NP_001341527.2:p.Leu213Met
NM_001354599.2:c.724C>A	NP_001341528.2:p.Leu242Met
NM_001354600.2:c.724C>A	NP_001341529.2:p.Leu242Met
NM_001354601.2:c.637C>A	NP_001341530.2:p.Leu213Met
NM_002225.4:c.637C>A	NP_002216.3:p.Leu213Met
NR_148925.1:n.1047C>A
XM_006720495.3:c.646C>A	XP_006720558.1:p.Leu216Met
XM_017022149.1:c.733C>A	XP_016877638.1:p.Leu245Met
XM_017022150.1:c.733C>A	XP_016877639.1:p.Leu245Met
XM_017022153.1:c.733C>A	XP_016877642.1:p.Leu245Met
XM_017022154.2:c.676C>A	XP_016877643.1:p.Leu226Met
XM_017022155.2:c.733C>A	XP_016877644.1:p.Leu245Met
XM_017022157.1:c.733C>A	XP_016877646.1:p.Leu245Met
XM_017022158.2:c.733C>A	XP_016877647.1:p.Leu245Met
XR_001751263.1:n.996C>A
XR_001751264.1:n.1037C>A
NM_001159508.3:c.547C>A	NP_001152980.2:p.Leu183Met
NM_001354597.3:c.589C>A	NP_001341526.1:p.Leu197Met
NM_001354598.3:c.637C>A	NP_001341527.2:p.Leu213Met
NM_001354599.3:c.724C>A	NP_001341528.2:p.Leu242Met
NM_001354600.3:c.724C>A	NP_001341529.2:p.Leu242Met
NM_001354601.3:c.637C>A	NP_001341530.2:p.Leu213Met
NM_002225.5:c.637C>A MANE Select	NP_002216.3:p.Leu213Met
NR_148925.2:n.1049C>A